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_000016.10:g.2084912G>T , CM000678.2:g.2084912G>T | GRCh38 |
| NC_000016.9:g.2134913G>T , CM000678.1:g.2134913G>T | GRCh37 |
| NC_000016.8:g.2074914G>T | NCBI36 |
| NG_005895.1:g.40607G>T , LRG_487:g.40607G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2843-39G>T | ENSP00000455997.2:n.*2843-39G>T | |
| ENST00000642206.2:c.4341-39G>T | ENSP00000495146.2:n.4341-39G>T | |
| ENST00000642365.2:c.4491-39G>T | ENSP00000495459.2:n.4491-39G>T | |
| ENST00000644417.2:c.*4874-39G>T | ENSP00000493912.2:n.*4874-39G>T | |
| ENST00000646464.2:c.*7243-39G>T | ENSP00000496610.2:n.*7243-39G>T | |
| ENST00000219476.9:c.4494-39G>T MANE Select | ENSP00000219476.3:n.4494-39G>T | |
| ENST00000350773.9:c.4425-39G>T | ENSP00000344383.4:n.4425-39G>T | |
| ENST00000401874.7:c.4293-39G>T | ENSP00000384468.2:n.4293-39G>T | |
| ENST00000568454.6:c.4326-39G>T | ENSP00000454487.1:n.4326-39G>T | |
| ENST00000569110.2:c.717-39G>T | ||
| ENST00000569930.2:n.2376-39G>T | ||
| ENST00000642365.1:c.3148-39G>T | ||
| ENST00000642561.1:c.4365-39G>T | ENSP00000495099.1:n.4365-39G>T | |
| ENST00000642728.1:n.676-39G>T | ||
| ENST00000642797.1:c.4296-39G>T | ENSP00000493846.1:n.4296-39G>T | |
| ENST00000642936.1:c.4362-39G>T | ENSP00000494514.1:n.4362-39G>T | |
| ENST00000643088.1:c.4293-39G>T | ENSP00000494747.1:n.4293-39G>T | |
| ENST00000643177.1:n.508-39G>T | ||
| ENST00000643426.1:n.2142-39G>T | ||
| ENST00000643946.1:c.4425-39G>T | ENSP00000495927.1:n.4425-39G>T | |
| ENST00000644043.1:c.4365-39G>T | ENSP00000496262.1:n.4365-39G>T | |
| ENST00000644329.1:c.4293-39G>T | ENSP00000496611.1:n.4293-39G>T | |
| ENST00000644335.1:c.4296-39G>T | ENSP00000496317.1:n.4296-39G>T | |
| ENST00000644399.1:c.4415-39G>T | ||
| ENST00000645024.1:n.2578-39G>T | ||
| ENST00000646388.1:c.4494-39G>T | ENSP00000495921.1:n.4494-39G>T | |
| ENST00000646634.1:n.3309-39G>T | ||
| ENST00000646674.1:n.1746-39G>T | ||
| ENST00000647042.1:n.1717-39G>T | ||
| ENST00000647180.1:n.1607-39G>T | ||
| ENST00000219476.7:c.4494-39G>T | ENSP00000219476.3:n.4494-39G>T | |
| ENST00000350773.8:c.4425-39G>T | ENSP00000344383.4:n.4425-39G>T | |
| ENST00000382538.10:c.4149-39G>T | ENSP00000371978.6:n.4149-39G>T | |
| ENST00000401874.6:c.4293-39G>T | ENSP00000384468.2:n.4293-39G>T | |
| ENST00000439117.6:c.*3661-39G>T | ENSP00000406980.2:n.*3661-39G>T | |
| ENST00000439673.6:c.4185-39G>T | ENSP00000399232.2:n.4185-39G>T | |
| ENST00000497886.5:n.2252-39G>T | ||
| ENST00000568454.5:c.4326-39G>T | ENSP00000454487.1:n.4326-39G>T | |
| ENST00000569110.1:c.676-39G>T | ||
| ENST00000569930.1:n.1609-39G>T | ||
| NM_000548.3:c.4494-39G>T , LRG_487t1:c.4494-39G>T | NP_000539.2:n.4494-39G>T | |
| NM_001077183.1:c.4293-39G>T | NP_001070651.1:n.4293-39G>T | |
| NM_001114382.1:c.4425-39G>T | NP_001107854.1:n.4425-39G>T | |
| XM_005255529.3:c.4365-39G>T | XP_005255586.2:n.4365-39G>T | |
| XM_005255531.3:c.4296-39G>T | XP_005255588.2:n.4296-39G>T | |
| XM_011522636.1:c.4548-39G>T | XP_011520938.1:n.4548-39G>T | |
| XM_011522637.1:c.4545-39G>T | XP_011520939.1:n.4545-39G>T | |
| XM_011522638.1:c.4437-39G>T | XP_011520940.1:n.4437-39G>T | |
| XM_011522639.1:c.4419-39G>T | XP_011520941.1:n.4419-39G>T | |
| XM_011522640.1:c.4416-39G>T | XP_011520942.1:n.4416-39G>T | |
| XM_011522641.1:c.4185-39G>T | XP_011520943.1:n.4185-39G>T | |
| NM_000548.4:c.4494-39G>T | NP_000539.2:n.4494-39G>T | |
| NM_001077183.2:c.4293-39G>T | NP_001070651.1:n.4293-39G>T | |
| NM_001114382.2:c.4425-39G>T | NP_001107854.1:n.4425-39G>T | |
| NM_001318827.1:c.4185-39G>T | NP_001305756.1:n.4185-39G>T | |
| NM_001318829.1:c.4149-39G>T | NP_001305758.1:n.4149-39G>T | |
| NM_001318831.1:c.3762-39G>T | NP_001305760.1:n.3762-39G>T | |
| NM_001318832.1:c.4326-39G>T | NP_001305761.1:n.4326-39G>T | |
| NM_001363528.1:c.4296-39G>T | NP_001350457.1:n.4296-39G>T | |
| NM_021055.2:c.4365-39G>T | NP_066399.2:n.4365-39G>T | |
| XM_005255531.4:c.4296-39G>T | XP_005255588.2:n.4296-39G>T | |
| XM_011522636.2:c.4548-39G>T | XP_011520938.1:n.4548-39G>T | |
| XM_011522637.2:c.4545-39G>T | XP_011520939.1:n.4545-39G>T | |
| XM_011522638.2:c.4710-39G>T | XP_011520940.2:n.4710-39G>T | |
| XM_011522639.2:c.4419-39G>T | XP_011520941.1:n.4419-39G>T | |
| XM_011522640.2:c.4416-39G>T | XP_011520942.1:n.4416-39G>T | |
| XM_017023615.1:c.4491-39G>T | XP_016879104.1:n.4491-39G>T | |
| XM_017023616.1:c.4362-39G>T | XP_016879105.1:n.4362-39G>T | |
| XM_017023617.1:c.4458-39G>T | XP_016879106.1:n.4458-39G>T | |
| XM_017023618.1:c.3204-39G>T | XP_016879107.1:n.3204-39G>T | |
| XM_024450413.1:c.4293-39G>T | XP_024306181.1:n.4293-39G>T | |
| NM_000548.5:c.4494-39G>T MANE Select | NP_000539.2:n.4494-39G>T | |
| NM_001370404.1:c.4362-39G>T | NP_001357333.1:n.4362-39G>T | |
| NM_001370405.1:c.4365-39G>T | NP_001357334.1:n.4365-39G>T | |
| NM_001077183.3:c.4293-39G>T | NP_001070651.1:n.4293-39G>T | |
| NM_001114382.3:c.4425-39G>T | NP_001107854.1:n.4425-39G>T | |
| NM_001318827.2:c.4185-39G>T | NP_001305756.1:n.4185-39G>T | |
| NM_001318829.2:c.4149-39G>T | NP_001305758.1:n.4149-39G>T | |
| NM_001318831.2:c.3762-39G>T | NP_001305760.1:n.3762-39G>T | |
| NM_001318832.2:c.4326-39G>T | NP_001305761.1:n.4326-39G>T | |
| NM_001363528.2:c.4296-39G>T | NP_001350457.1:n.4296-39G>T | |
| NM_021055.3:c.4365-39G>T | NP_066399.2:n.4365-39G>T |