UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151870822A>G , CM000664.2:g.151870822A>G | GRCh38 |
| NC_000002.11:g.152727336A>G , CM000664.1:g.152727336A>G | GRCh37 |
| NC_000002.10:g.152435582A>G | NCBI36 |
| NG_012641.1:g.233258T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000534999.7:c.516+20T>C | ENSP00000443893.1:n.516+20T>C | |
| ENST00000201943.10:c.618+20T>C | ENSP00000201943.5:n.618+20T>C | |
| ENST00000360283.11:c.516+20T>C | ENSP00000353425.8:n.516+20T>C | |
| ENST00000397327.7:c.477+20T>C | ENSP00000380490.3:n.477+20T>C | |
| ENST00000427385.6:c.495+20T>C | ENSP00000410978.2:n.495+20T>C | |
| ENST00000434468.2:c.354+20T>C | ENSP00000399242.2:n.354+20T>C | |
| ENST00000439467.6:c.477+20T>C | ENSP00000390161.2:n.477+20T>C | |
| ENST00000470066.2:n.747+20T>C | ||
| ENST00000534999.6:c.516+20T>C | ENSP00000443893.1:n.516+20T>C | |
| ENST00000539935.7:c.618+20T>C MANE Select | ENSP00000438949.1:n.618+20T>C | |
| ENST00000635738.1:c.516+20T>C | ENSP00000489881.1:n.516+20T>C | |
| ENST00000635803.1:n.858+20T>C | ||
| ENST00000635904.1:c.477+20T>C | ENSP00000490430.1:n.477+20T>C | |
| ENST00000635930.1:c.60+20T>C | ENSP00000489953.1:n.60+20T>C | |
| ENST00000636108.1:c.477+20T>C | ENSP00000490176.1:n.477+20T>C | |
| ENST00000636129.1:c.564+20T>C | ENSP00000489912.1:n.564+20T>C | |
| ENST00000636130.1:c.477+20T>C | ENSP00000490607.1:n.477+20T>C | |
| ENST00000636350.1:c.393+20T>C | ENSP00000489621.1:n.393+20T>C | |
| ENST00000636380.1:c.457+1595T>C | ENSP00000490488.1:n.457+1595T>C | |
| ENST00000636390.1:c.147-211T>C | ||
| ENST00000636442.1:c.441+20T>C | ENSP00000489779.1:n.441+20T>C | |
| ENST00000636507.1:c.477+20T>C | ENSP00000490252.1:n.477+20T>C | |
| ENST00000636598.1:c.477+20T>C | ENSP00000490247.1:n.477+20T>C | |
| ENST00000636617.1:c.419+5604T>C | ENSP00000490660.1:n.419+5604T>C | |
| ENST00000636664.1:c.516+20T>C | ENSP00000490572.1:n.516+20T>C | |
| ENST00000636721.1:c.477+20T>C | ENSP00000490795.1:n.477+20T>C | |
| ENST00000636762.1:c.*20+20T>C | ENSP00000490918.1:n.*20+20T>C | |
| ENST00000636773.1:c.477+20T>C | ENSP00000489818.1:n.477+20T>C | |
| ENST00000636785.1:c.564+20T>C | ENSP00000489788.1:n.564+20T>C | |
| ENST00000636810.1:n.2471T>C | ||
| ENST00000636831.1:n.2309T>C | ||
| ENST00000636834.1:n.2310T>C | ||
| ENST00000636901.1:c.516+20T>C | ENSP00000490145.1:n.516+20T>C | |
| ENST00000636947.1:c.516+20T>C | ENSP00000490337.1:n.516+20T>C | |
| ENST00000637007.1:c.241-211T>C | ||
| ENST00000637132.1:c.477+20T>C | ENSP00000490651.1:n.477+20T>C | |
| ENST00000637216.1:c.516+20T>C | ENSP00000490910.1:n.516+20T>C | |
| ENST00000637217.1:c.477+20T>C | ENSP00000490250.1:n.477+20T>C | |
| ENST00000637224.1:c.477+20T>C | ENSP00000490276.1:n.477+20T>C | |
| ENST00000637232.1:c.380+5604T>C | ENSP00000490138.1:n.380+5604T>C | |
| ENST00000637284.1:c.60+20T>C | ENSP00000489787.1:n.60+20T>C | |
| ENST00000637309.1:c.618+20T>C | ENSP00000490127.1:n.618+20T>C | |
| ENST00000637312.1:c.497-211T>C | ENSP00000490144.1:n.497-211T>C | |
| ENST00000637319.1:n.896+20T>C | ||
| ENST00000637330.1:c.*555+20T>C | ENSP00000490817.1:n.*555+20T>C | |
| ENST00000637418.1:c.393+20T>C | ENSP00000489679.1:n.393+20T>C | |
| ENST00000637436.1:c.*436+20T>C | ENSP00000489746.1:n.*436+20T>C | |
| ENST00000637491.1:c.516+20T>C | ENSP00000490510.1:n.516+20T>C | |
| ENST00000637514.1:c.60+20T>C | ENSP00000490304.1:n.60+20T>C | |
| ENST00000637530.1:n.736+20T>C | ||
| ENST00000637535.1:c.516+20T>C | ENSP00000490891.1:n.516+20T>C | |
| ENST00000637547.1:c.477+20T>C | ENSP00000490124.1:n.477+20T>C | |
| ENST00000637550.1:c.419+5604T>C | ENSP00000489943.1:n.419+5604T>C | |
| ENST00000637559.1:c.516+20T>C | ENSP00000489697.1:n.516+20T>C | |
| ENST00000637622.1:n.896+20T>C | ||
| ENST00000637762.1:c.528+20T>C | ENSP00000489876.1:n.528+20T>C | |
| ENST00000637765.1:n.736+20T>C | ||
| ENST00000637773.1:n.2311T>C | ||
| ENST00000637779.1:c.497-211T>C | ENSP00000489732.1:n.497-211T>C | |
| ENST00000637828.1:c.477+20T>C | ENSP00000490443.1:n.477+20T>C | |
| ENST00000637884.1:n.3314T>C | ||
| ENST00000637913.1:n.603+20T>C | ||
| ENST00000637956.1:c.60+20T>C | ENSP00000490298.1:n.60+20T>C | |
| ENST00000638005.1:c.564+20T>C | ENSP00000489677.1:n.564+20T>C | |
| ENST00000638040.1:c.458-211T>C | ENSP00000489883.1:n.458-211T>C | |
| ENST00000638056.1:c.232-211T>C | ||
| ENST00000638091.1:c.516+20T>C | ENSP00000489967.1:n.516+20T>C | |
| ENST00000638150.1:c.496+1595T>C | ENSP00000490501.1:n.496+1595T>C | |
| ENST00000201943.9:c.618+20T>C | ENSP00000201943.5:n.618+20T>C | |
| ENST00000360283.10:c.516+20T>C | ENSP00000353425.7:n.516+20T>C | |
| ENST00000397327.6:c.477+20T>C | ENSP00000380490.2:n.477+20T>C | |
| ENST00000427385.5:c.564+20T>C | ENSP00000410978.1:n.564+20T>C | |
| ENST00000439467.5:c.603+20T>C | ENSP00000390161.1:n.603+20T>C | |
| ENST00000470066.1:n.523+20T>C | ||
| ENST00000534999.5:c.516+20T>C | ENSP00000443893.1:n.516+20T>C | |
| ENST00000539935.5:c.618+20T>C | ENSP00000438949.1:n.618+20T>C | |
| NM_000726.3:c.618+20T>C | NP_000717.2:n.618+20T>C | |
| NM_001005746.2:c.564+20T>C | NP_001005746.1:n.564+20T>C | |
| NM_001005747.2:c.516+20T>C | NP_001005747.1:n.516+20T>C | |
| NM_001145798.1:c.618+20T>C | NP_001139270.1:n.618+20T>C | |
| XM_005246838.2:c.516+20T>C | XP_005246895.1:n.516+20T>C | |
| XM_006712731.1:c.477+20T>C | XP_006712794.1:n.477+20T>C | |
| XM_011511795.1:c.477+20T>C | XP_011510097.1:n.477+20T>C | |
| XM_011511796.1:c.474+20T>C | XP_011510098.1:n.474+20T>C | |
| XM_011511797.1:c.599-211T>C | XP_011510099.1:n.599-211T>C | |
| XM_011511798.1:c.618+20T>C | XP_011510100.1:n.618+20T>C | |
| XM_011511799.1:c.618+20T>C | XP_011510101.1:n.618+20T>C | |
| XM_011511800.1:c.-36-211T>C | XP_011510102.1:n.-36-211T>C | |
| XR_923022.1:n.1595+20T>C | ||
| XR_923023.1:n.1595+20T>C | ||
| NM_000726.4:c.618+20T>C | NP_000717.2:n.618+20T>C | |
| NM_001005746.3:c.564+20T>C | NP_001005746.1:n.564+20T>C | |
| NM_001005747.3:c.516+20T>C | NP_001005747.1:n.516+20T>C | |
| NM_001145798.2:c.618+20T>C | NP_001139270.1:n.618+20T>C | |
| NM_001320722.2:c.477+20T>C | NP_001307651.1:n.477+20T>C | |
| NM_001330113.1:c.545-211T>C | NP_001317042.1:n.545-211T>C | |
| NM_001330114.1:c.-36-211T>C | NP_001317043.1:n.-36-211T>C | |
| NM_001330115.1:c.497-211T>C | NP_001317044.1:n.497-211T>C | |
| NM_001330116.1:c.458-211T>C | NP_001317045.1:n.458-211T>C | |
| NM_001330117.1:c.60+20T>C | NP_001317046.1:n.60+20T>C | |
| NM_001330118.1:c.477+20T>C | NP_001317047.1:n.477+20T>C | |
| XM_011511796.2:c.474+20T>C | XP_011510098.1:n.474+20T>C | |
| XM_011511797.3:c.599-211T>C | XP_011510099.1:n.599-211T>C | |
| XM_017004885.1:c.-36-211T>C | XP_016860374.1:n.-36-211T>C | |
| XM_017004888.2:c.545-211T>C | XP_016860377.1:n.545-211T>C | |
| XM_024453128.1:c.60+20T>C | XP_024308896.1:n.60+20T>C | |
| XR_001738928.1:n.2404+20T>C | ||
| XR_001738935.1:n.755+20T>C | ||
| XR_001738937.2:n.896+20T>C | ||
| XR_001738938.2:n.896+20T>C | ||
| XR_001738939.1:n.755+20T>C | ||
| XR_001738940.2:n.896+20T>C | ||
| XR_002959337.1:n.771+20T>C | ||
| XR_002959338.1:n.896+20T>C | ||
| XR_923022.3:n.771+20T>C | ||
| NM_001005746.4:c.564+20T>C | NP_001005746.1:n.564+20T>C | |
| NM_001005747.4:c.516+20T>C | NP_001005747.1:n.516+20T>C | |
| NM_001320722.3:c.477+20T>C | NP_001307651.1:n.477+20T>C | |
| NM_001330113.2:c.545-211T>C | NP_001317042.1:n.545-211T>C | |
| NM_001330114.2:c.-36-211T>C | NP_001317043.1:n.-36-211T>C | |
| NM_001330115.2:c.497-211T>C | NP_001317044.1:n.497-211T>C | |
| NM_001330116.2:c.458-211T>C | NP_001317045.1:n.458-211T>C | |
| NM_001330117.2:c.60+20T>C | NP_001317046.1:n.60+20T>C | |
| NM_000726.5:c.618+20T>C MANE Select | NP_000717.2:n.618+20T>C |