WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
gnomAD v4:
6-85507188-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85507188A>C , CM000668.2:g.85507188A>C | GRCh38 |
| NC_000006.11:g.86216906A>C , CM000668.1:g.86216906A>C | GRCh37 |
| NC_000006.10:g.86273625A>C | NCBI36 |
| NG_047171.1:g.91969T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418862.2:c.930+45T>G | ENSP00000391981.2:n.930+45T>G | |
| ENST00000508658.6:c.*27T>G | ENSP00000422814.2:n.*27T>G | |
| ENST00000509338.6:c.1923+45T>G | ENSP00000424302.2:n.1923+45T>G | |
| ENST00000514801.2:n.2019+45T>G | ||
| ENST00000515216.6:c.2769+45T>G | ENSP00000425630.2:n.2769+45T>G | |
| ENST00000681965.1:c.3940+45T>G | ENSP00000507317.1:n.3940+45T>G | |
| ENST00000681981.1:c.2718+45T>G | ENSP00000507672.1:n.2718+45T>G | |
| ENST00000682022.1:c.*2694+45T>G | ENSP00000508118.1:n.*2694+45T>G | |
| ENST00000682023.1:c.*2425+45T>G | ENSP00000507998.1:n.*2425+45T>G | |
| ENST00000682034.1:c.*1969+45T>G | ENSP00000506724.1:n.*1969+45T>G | |
| ENST00000682057.1:c.*2231+45T>G | ENSP00000507883.1:n.*2231+45T>G | |
| ENST00000682083.1:c.*2712+45T>G | ENSP00000506859.1:n.*2712+45T>G | |
| ENST00000682106.1:n.5316+45T>G | ||
| ENST00000682133.1:c.*365+45T>G | ENSP00000507001.1:n.*365+45T>G | |
| ENST00000682171.1:c.2643+45T>G | ENSP00000508327.1:n.2643+45T>G | |
| ENST00000682174.1:c.*2425+45T>G | ENSP00000507248.1:n.*2425+45T>G | |
| ENST00000682374.1:c.*1348+45T>G | ENSP00000507425.1:n.*1348+45T>G | |
| ENST00000682412.1:c.2642+45T>G | ENSP00000507297.1:n.2642+45T>G | |
| ENST00000682454.1:c.*2165+45T>G | ENSP00000507851.1:n.*2165+45T>G | |
| ENST00000682455.1:c.*3780+45T>G | ENSP00000507586.1:n.*3780+45T>G | |
| ENST00000682464.1:c.*410T>G | ENSP00000507625.1:n.*410T>G | |
| ENST00000682491.1:c.2514+45T>G | ENSP00000506970.1:n.2514+45T>G | |
| ENST00000682497.1:c.2799+45T>G | ENSP00000507869.1:n.2799+45T>G | |
| ENST00000682504.1:c.*2708+45T>G | ENSP00000507623.1:n.*2708+45T>G | |
| ENST00000682514.1:n.8634T>G | ||
| ENST00000682594.1:n.3418+45T>G | ||
| ENST00000682633.1:c.*365+45T>G | ENSP00000507843.1:n.*365+45T>G | |
| ENST00000682660.1:c.2541+45T>G | ENSP00000507539.1:n.2541+45T>G | |
| ENST00000682682.1:c.2637+45T>G | ENSP00000507777.1:n.2637+45T>G | |
| ENST00000682688.1:c.*1807+45T>G | ENSP00000507097.1:n.*1807+45T>G | |
| ENST00000682694.1:c.*2165+45T>G | ENSP00000507387.1:n.*2165+45T>G | |
| ENST00000682709.1:n.8721+45T>G | ||
| ENST00000682738.1:c.2610+45T>G | ENSP00000507742.1:n.2610+45T>G | |
| ENST00000682776.1:c.*1553+45T>G | ENSP00000507490.1:n.*1553+45T>G | |
| ENST00000682854.1:c.*2790+45T>G | ENSP00000507257.1:n.*2790+45T>G | |
| ENST00000682878.1:c.*2490+45T>G | ENSP00000507360.1:n.*2490+45T>G | |
| ENST00000682926.1:n.2209+45T>G | ||
| ENST00000682939.1:c.2514+45T>G | ENSP00000506902.1:n.2514+45T>G | |
| ENST00000682991.1:c.2583+45T>G | ENSP00000508193.1:n.2583+45T>G | |
| ENST00000682995.1:c.*1526+45T>G | ENSP00000506807.1:n.*1526+45T>G | |
| ENST00000683073.1:c.*920+45T>G | ENSP00000507270.1:n.*920+45T>G | |
| ENST00000683074.1:c.*2712+45T>G | ENSP00000507008.1:n.*2712+45T>G | |
| ENST00000683085.1:c.*877+45T>G | ENSP00000507993.1:n.*877+45T>G | |
| ENST00000683097.1:c.*1217T>G | ENSP00000507556.1:n.*1217T>G | |
| ENST00000683126.1:c.*2322+45T>G | ENSP00000507507.1:n.*2322+45T>G | |
| ENST00000683195.1:c.*2165+45T>G | ENSP00000508190.1:n.*2165+45T>G | |
| ENST00000683196.1:c.*2165+45T>G | ENSP00000508297.1:n.*2165+45T>G | |
| ENST00000683364.1:c.*2672+45T>G | ENSP00000507791.1:n.*2672+45T>G | |
| ENST00000683436.1:c.*1833+45T>G | ENSP00000506874.1:n.*1833+45T>G | |
| ENST00000683458.1:c.*1553+45T>G | ENSP00000508204.1:n.*1553+45T>G | |
| ENST00000683473.1:n.3913+45T>G | ||
| ENST00000683479.1:c.2802+45T>G | ENSP00000507368.1:n.2802+45T>G | |
| ENST00000683481.1:c.*1684+45T>G | ENSP00000507015.1:n.*1684+45T>G | |
| ENST00000683541.1:c.*27T>G | ENSP00000507116.1:n.*27T>G | |
| ENST00000683542.1:c.*2326+45T>G | ENSP00000506893.1:n.*2326+45T>G | |
| ENST00000683577.1:c.*365+45T>G | ENSP00000507516.1:n.*365+45T>G | |
| ENST00000683583.1:c.*5216+45T>G | ENSP00000507244.1:n.*5216+45T>G | |
| ENST00000683643.1:c.2670+45T>G | ENSP00000507444.1:n.2670+45T>G | |
| ENST00000683698.1:c.*2318+45T>G | ENSP00000507000.1:n.*2318+45T>G | |
| ENST00000683726.1:c.*2322+45T>G | ENSP00000507744.1:n.*2322+45T>G | |
| ENST00000683754.1:c.2721+45T>G | ENSP00000507707.1:n.2721+45T>G | |
| ENST00000683763.1:n.1500+45T>G | ||
| ENST00000683785.1:c.2667+45T>G | ENSP00000507188.1:n.2667+45T>G | |
| ENST00000683803.1:c.*1553+45T>G | ENSP00000508216.1:n.*1553+45T>G | |
| ENST00000683857.1:c.*2231+45T>G | ENSP00000508015.1:n.*2231+45T>G | |
| ENST00000683873.1:c.*2377+45T>G | ENSP00000506829.1:n.*2377+45T>G | |
| ENST00000683878.1:c.*2083+45T>G | ENSP00000507449.1:n.*2083+45T>G | |
| ENST00000683880.1:c.*2326+45T>G | ENSP00000508357.1:n.*2326+45T>G | |
| ENST00000683898.1:c.2637+45T>G | ENSP00000506897.1:n.2637+45T>G | |
| ENST00000683909.1:n.4832+45T>G | ||
| ENST00000684017.1:n.8359T>G | ||
| ENST00000684108.1:n.8766T>G | ||
| ENST00000684118.1:c.2766+45T>G | ENSP00000507950.1:n.2766+45T>G | |
| ENST00000684150.1:c.2643+45T>G | ENSP00000507401.1:n.2643+45T>G | |
| ENST00000684220.1:c.*2672+45T>G | ENSP00000507382.1:n.*2672+45T>G | |
| ENST00000684239.1:c.*2427+45T>G | ENSP00000507479.1:n.*2427+45T>G | |
| ENST00000684273.1:c.*2295+45T>G | ENSP00000508063.1:n.*2295+45T>G | |
| ENST00000684281.1:c.2451+45T>G | ENSP00000507932.1:n.2451+45T>G | |
| ENST00000684299.1:c.*365+45T>G | ENSP00000507637.1:n.*365+45T>G | |
| ENST00000684319.1:c.*365+45T>G | ENSP00000508346.1:n.*365+45T>G | |
| ENST00000684422.1:c.*2475+45T>G | ENSP00000507146.1:n.*2475+45T>G | |
| ENST00000684451.1:c.*2107+45T>G | ENSP00000507384.1:n.*2107+45T>G | |
| ENST00000684570.1:c.2865+45T>G | ENSP00000508127.1:n.2865+45T>G | |
| ENST00000684581.1:c.*623+45T>G | ENSP00000507294.1:n.*623+45T>G | |
| ENST00000684647.1:c.2511+45T>G | ENSP00000506873.1:n.2511+45T>G | |
| ENST00000684680.1:c.2427+45T>G | ENSP00000507491.1:n.2427+45T>G | |
| ENST00000684717.1:c.2919+45T>G | ENSP00000507024.1:n.2919+45T>G | |
| ENST00000314673.8:c.2802+45T>G MANE Select | ENSP00000313121.3:n.2802+45T>G | |
| ENST00000314673.7:c.2802+45T>G | ENSP00000313121.3:n.2802+45T>G | |
| ENST00000346348.7:c.2643+45T>G | ENSP00000257769.3:n.2643+45T>G | |
| ENST00000369627.6:c.2775+45T>G | ENSP00000358641.2:n.2775+45T>G | |
| ENST00000474645.6:n.547+45T>G | ||
| ENST00000503491.5:n.3291+45T>G | ||
| ENST00000505648.5:c.2646+45T>G | ENSP00000427380.1:n.2646+45T>G | |
| ENST00000508980.5:n.3408+45T>G | ||
| ENST00000513865.5:c.1959+45T>G | ENSP00000420938.1:n.1959+45T>G | |
| NM_001297614.2:c.2775+45T>G | NP_001284543.1:n.2775+45T>G | |
| NM_001304479.1:c.2646+45T>G | NP_001291408.1:n.2646+45T>G | |
| NM_020468.5:c.2643+45T>G | NP_065201.1:n.2643+45T>G | |
| NM_153816.5:c.2802+45T>G | NP_722523.1:n.2802+45T>G | |
| XM_005248738.3:c.2799+45T>G | XP_005248795.1:n.2799+45T>G | |
| XM_005248740.3:c.2670+45T>G | XP_005248797.1:n.2670+45T>G | |
| XM_011535978.1:c.2583+45T>G | XP_011534280.1:n.2583+45T>G | |
| XM_011535979.1:c.2514+45T>G | XP_011534281.1:n.2514+45T>G | |
| XM_011535980.1:c.1647+45T>G | XP_011534282.1:n.1647+45T>G | |
| XR_942523.1:n.2910+45T>G | ||
| NM_001350532.1:c.2865+45T>G | NP_001337461.1:n.2865+45T>G | |
| NM_001350533.1:c.2799+45T>G | NP_001337462.1:n.2799+45T>G | |
| NM_001350534.1:c.2772+45T>G | NP_001337463.1:n.2772+45T>G | |
| NM_001350535.1:c.2766+45T>G | NP_001337464.1:n.2766+45T>G | |
| NM_001350536.1:c.2670+45T>G | NP_001337465.1:n.2670+45T>G | |
| NM_001350537.1:c.2667+45T>G | NP_001337466.1:n.2667+45T>G | |
| NM_001350538.1:c.2658+45T>G | NP_001337467.1:n.2658+45T>G | |
| NM_001350539.1:c.2643+45T>G | NP_001337468.1:n.2643+45T>G | |
| NM_001350540.1:c.2637+45T>G | NP_001337469.1:n.2637+45T>G | |
| NM_001350541.1:c.2610+45T>G | NP_001337470.1:n.2610+45T>G | |
| NM_001350542.1:c.2514+45T>G | NP_001337471.1:n.2514+45T>G | |
| NM_001350543.1:c.2511+45T>G | NP_001337472.1:n.2511+45T>G | |
| NM_001350544.1:c.2502+45T>G | NP_001337473.1:n.2502+45T>G | |
| NM_001350545.1:c.2358+45T>G | NP_001337474.1:n.2358+45T>G | |
| NM_001350546.1:c.2358+45T>G | NP_001337475.1:n.2358+45T>G | |
| NM_001350547.1:c.1752+45T>G | NP_001337476.1:n.1752+45T>G | |
| NM_001350548.1:c.1647+45T>G | NP_001337477.1:n.1647+45T>G | |
| NM_001350549.1:c.1647+45T>G | NP_001337478.1:n.1647+45T>G | |
| NM_001350550.1:c.1647+45T>G | NP_001337479.1:n.1647+45T>G | |
| NM_001350551.1:c.1647+45T>G | NP_001337480.1:n.1647+45T>G | |
| NM_001350552.1:c.1647+45T>G | NP_001337481.1:n.1647+45T>G | |
| NM_001350553.1:c.1620+45T>G | NP_001337482.1:n.1620+45T>G | |
| NR_146774.1:n.3236+45T>G | ||
| NR_146775.1:n.3239+45T>G | ||
| NR_146776.1:n.3362+45T>G | ||
| NR_146777.1:n.3490+45T>G | ||
| NR_146778.1:n.3494+45T>G | ||
| NR_146779.1:n.3491+45T>G | ||
| XM_017011090.1:c.2643+45T>G | XP_016866579.1:n.2643+45T>G | |
| XM_024446498.1:c.2511+45T>G | XP_024302266.1:n.2511+45T>G | |
| XM_024446499.1:c.1647+45T>G | XP_024302267.1:n.1647+45T>G | |
| NM_153816.6:c.2802+45T>G MANE Select | NP_722523.1:n.2802+45T>G | |
| NM_001297614.3:c.2775+45T>G | NP_001284543.1:n.2775+45T>G | |
| NM_001304479.2:c.2646+45T>G | NP_001291408.1:n.2646+45T>G | |
| NM_001350532.2:c.2865+45T>G | NP_001337461.1:n.2865+45T>G | |
| NM_001350533.2:c.2799+45T>G | NP_001337462.1:n.2799+45T>G | |
| NM_001350534.2:c.2772+45T>G | NP_001337463.1:n.2772+45T>G | |
| NM_001350535.2:c.2766+45T>G | NP_001337464.1:n.2766+45T>G | |
| NM_001350536.2:c.2670+45T>G | NP_001337465.1:n.2670+45T>G | |
| NM_001350537.2:c.2667+45T>G | NP_001337466.1:n.2667+45T>G | |
| NM_001350538.2:c.2658+45T>G | NP_001337467.1:n.2658+45T>G | |
| NM_001350539.2:c.2643+45T>G | NP_001337468.1:n.2643+45T>G | |
| NM_001350540.2:c.2637+45T>G | NP_001337469.1:n.2637+45T>G | |
| NM_001350541.2:c.2610+45T>G | NP_001337470.1:n.2610+45T>G | |
| NM_001350542.2:c.2514+45T>G | NP_001337471.1:n.2514+45T>G | |
| NM_001350543.2:c.2511+45T>G | NP_001337472.1:n.2511+45T>G | |
| NM_001350544.2:c.2502+45T>G | NP_001337473.1:n.2502+45T>G | |
| NM_001350545.2:c.2358+45T>G | NP_001337474.1:n.2358+45T>G | |
| NM_001350546.2:c.2358+45T>G | NP_001337475.1:n.2358+45T>G | |
| NM_001350547.2:c.1752+45T>G | NP_001337476.1:n.1752+45T>G | |
| NM_001350548.2:c.1647+45T>G | NP_001337477.1:n.1647+45T>G | |
| NM_001350549.2:c.1647+45T>G | NP_001337478.1:n.1647+45T>G | |
| NM_001350550.2:c.1647+45T>G | NP_001337479.1:n.1647+45T>G | |
| NM_001350551.2:c.1647+45T>G | NP_001337480.1:n.1647+45T>G | |
| NM_001350552.2:c.1647+45T>G | NP_001337481.1:n.1647+45T>G | |
| NM_001350553.2:c.1620+45T>G | NP_001337482.1:n.1620+45T>G | |
| NM_020468.6:c.2643+45T>G | NP_065201.1:n.2643+45T>G | |
| NR_146774.2:n.2938+45T>G | ||
| NR_146775.2:n.2941+45T>G | ||
| NR_146776.2:n.3064+45T>G | ||
| NR_146777.2:n.3192+45T>G | ||
| NR_146778.2:n.3196+45T>G | ||
| NR_146779.2:n.3193+45T>G |