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_000007.14:g.152148676T= , CM000669.2:g.152148676T= | GRCh38 |
| NC_000007.13:g.151845761T= , CM000669.1:g.151845761T= | GRCh37 |
| NC_000007.12:g.151476694T= | NCBI36 |
| NG_033948.1:g.292330A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682040.1:c.1439A= | ||
| ENST00000682116.1:n.2383A= | ||
| ENST00000682283.1:c.13422A= | ENSP00000507485.1:p.Ala4474= | |
| ENST00000682629.1:n.2551A= | ||
| ENST00000683120.1:n.8443A= | ||
| ENST00000683178.1:c.3824A= | ||
| ENST00000683200.1:c.10761A= | ENSP00000508052.1:p.Ala3587= | |
| ENST00000683337.1:n.4881A= | ||
| ENST00000683502.1:c.3896A= | ||
| ENST00000683621.1:n.2017A= | ||
| ENST00000683640.1:n.1967A= | ||
| ENST00000684069.1:c.1668A= | ENSP00000507650.1:p.Ala556= | |
| ENST00000684261.1:c.8148A= | ENSP00000508097.1:p.Ala2716= | |
| ENST00000684391.1:n.9A= | ||
| ENST00000684649.1:c.3896A= | ||
| ENST00000262189.11:c.13251A= MANE Select | ENSP00000262189.6:p.Ala4417= | |
| ENST00000360104.8:c.9038A= | ||
| ENST00000418061.2:c.3893A= | ||
| ENST00000424877.6:c.3827A= | ||
| ENST00000679393.1:n.7962A= | ||
| ENST00000679560.1:c.8151A= | ENSP00000505094.1:p.Ala2717= | |
| ENST00000679882.1:c.12816A= | ENSP00000506154.1:p.Ala4272= | |
| ENST00000680029.1:c.3828A= | ||
| ENST00000680877.1:c.8151A= | ENSP00000505724.1:p.Ala2717= | |
| ENST00000681923.1:n.2266A= | ||
| ENST00000262189.10:c.13251A= | ENSP00000262189.6:p.Ala4417= | |
| ENST00000355193.6:c.13251A= | ENSP00000347325.3:p.Ala4417= | |
| ENST00000360104.7:c.5932A= | ||
| ENST00000424877.5:c.3102A= | ENSP00000410411.1:p.Ala1034= | |
| ENST00000473186.5:n.11133A= | ||
| ENST00000558084.5:c.*10771A= | ENSP00000453752.1:n.*10771A= | |
| NM_170606.2:c.13251A= | NP_733751.2:p.Ala4417= | |
| XM_005250025.3:c.13467A= | XP_005250082.1:p.Ala4489= | |
| XM_005250026.2:c.13464A= | XP_005250083.1:p.Ala4488= | |
| XM_005250027.3:c.13464A= | XP_005250084.1:p.Ala4488= | |
| XM_005250028.3:c.13467A= | XP_005250085.1:p.Ala4489= | |
| XM_005250031.3:c.13302A= | XP_005250088.1:p.Ala4434= | |
| XM_006716077.2:c.13464A= | XP_006716140.1:p.Ala4488= | |
| XM_006716078.2:c.13395A= | XP_006716141.1:p.Ala4465= | |
| XM_006716079.2:c.13299A= | XP_006716142.1:p.Ala4433= | |
| XM_011516450.1:c.13419A= | XP_011514752.1:p.Ala4473= | |
| XM_011516451.1:c.13347A= | XP_011514753.1:p.Ala4449= | |
| XM_011516452.1:c.13314A= | XP_011514754.1:p.Ala4438= | |
| XM_011516453.1:c.13230A= | XP_011514755.1:p.Ala4410= | |
| XM_011516454.1:c.12552A= | XP_011514756.1:p.Ala4184= | |
| XM_011516455.1:c.11013A= | XP_011514757.1:p.Ala3671= | |
| XM_011516456.1:c.13419A= | XP_011514758.1:p.Ala4473= | |
| XM_005250025.4:c.13467A= | XP_005250082.1:p.Ala4489= | |
| XM_005250026.3:c.13464A= | XP_005250083.1:p.Ala4488= | |
| XM_005250027.4:c.13464A= | XP_005250084.1:p.Ala4488= | |
| XM_005250028.4:c.13467A= | XP_005250085.1:p.Ala4489= | |
| XM_005250031.4:c.13302A= | XP_005250088.1:p.Ala4434= | |
| XM_006716077.3:c.13464A= | XP_006716140.1:p.Ala4488= | |
| XM_006716078.3:c.13395A= | XP_006716141.1:p.Ala4465= | |
| XM_006716079.3:c.13299A= | XP_006716142.1:p.Ala4433= | |
| XM_011516450.2:c.13419A= | XP_011514752.1:p.Ala4473= | |
| XM_011516451.2:c.13347A= | XP_011514753.1:p.Ala4449= | |
| XM_011516452.2:c.13314A= | XP_011514754.1:p.Ala4438= | |
| XM_011516453.2:c.13230A= | XP_011514755.1:p.Ala4410= | |
| XM_011516454.2:c.12552A= | XP_011514756.1:p.Ala4184= | |
| XM_011516456.2:c.13419A= | XP_011514758.1:p.Ala4473= | |
| XM_017012480.1:c.13467A= | XP_016867969.1:p.Ala4489= | |
| XM_017012481.1:c.13464A= | XP_016867970.1:p.Ala4488= | |
| XM_017012482.1:c.13464A= | XP_016867971.1:p.Ala4488= | |
| XM_017012483.1:c.13464A= | XP_016867972.1:p.Ala4488= | |
| XM_017012484.1:c.13434A= | XP_016867973.1:p.Ala4478= | |
| XM_017012485.1:c.13416A= | XP_016867974.1:p.Ala4472= | |
| XM_017012486.1:c.13392A= | XP_016867975.1:p.Ala4464= | |
| XM_017012487.1:c.13320A= | XP_016867976.1:p.Ala4440= | |
| XM_017012488.1:c.13284A= | XP_016867977.1:p.Ala4428= | |
| XM_017012489.1:c.10137A= | XP_016867978.1:p.Ala3379= | |
| XM_017012490.2:c.9741A= | XP_016867979.1:p.Ala3247= | |
| XM_024446852.1:c.13464A= | XP_024302620.1:p.Ala4488= | |
| XM_024446853.1:c.13392A= | XP_024302621.1:p.Ala4464= | |
| NM_170606.3:c.13251A= MANE Select | NP_733751.2:p.Ala4417= |