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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152141203C>A , CM000668.2:g.152141203C>A | GRCh38 |
| NC_000006.11:g.152462338C>A , CM000668.1:g.152462338C>A | GRCh37 |
| NC_000006.10:g.152504031C>A | NCBI36 |
| NG_012855.1:g.501197G>T | |
| NG_012855.2:g.501197G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1780G>T MANE Plus Clinical | ENSP00000346701.4:p.Gly594Cys | |
| ENST00000367255.10:c.25246G>T MANE Select | ENSP00000356224.5:p.Gly8416Cys | |
| ENST00000423061.6:c.25102G>T | ENSP00000396024.1:p.Gly8368Cys | |
| ENST00000672154.1:c.648G>T | ||
| ENST00000672169.1:c.981G>T | ||
| ENST00000673173.1:c.891-1042G>T | ||
| ENST00000673451.1:c.1018G>T | ENSP00000500189.1:p.Gly340Cys | |
| ENST00000341594.9:c.24031G>T | ENSP00000341887.6:p.Gly8011Cys | |
| ENST00000347037.9:n.1994G>T | ||
| ENST00000354674.4:c.1780G>T | ENSP00000346701.4:p.Gly594Cys | |
| ENST00000367251.7:c.4081G>T | ENSP00000356220.3:p.Gly1361Cys | |
| ENST00000367255.9:c.25246G>T | ENSP00000356224.5:p.Gly8416Cys | |
| ENST00000367256.9:n.8938G>T | ||
| ENST00000367257.8:c.3184G>T | ENSP00000356226.4:p.Gly1062Cys | |
| ENST00000409694.6:n.8830G>T | ||
| ENST00000423061.5:c.25102G>T | ENSP00000396024.1:p.Gly8368Cys | |
| ENST00000460912.6:n.1860G>T | ||
| ENST00000478916.5:n.4268G>T | ||
| ENST00000536990.5:n.2083G>T | ||
| ENST00000539504.5:c.1711G>T | ENSP00000441052.1:p.Gly571Cys | |
| NM_033071.3:c.25102G>T | NP_149062.1:p.Gly8368Cys | |
| NM_182961.3:c.25246G>T | NP_892006.3:p.Gly8416Cys | |
| XM_006715407.1:c.25351G>T | XP_006715470.1:p.Gly8451Cys | |
| XM_006715408.1:c.25339G>T | XP_006715471.1:p.Gly8447Cys | |
| XM_006715409.1:c.25330G>T | XP_006715472.1:p.Gly8444Cys | |
| XM_006715410.1:c.25351G>T | XP_006715473.1:p.Gly8451Cys | |
| XM_006715411.1:c.25300G>T | XP_006715474.1:p.Gly8434Cys | |
| XM_006715412.1:c.25336G>T | XP_006715475.1:p.Gly8446Cys | |
| XM_006715413.1:c.25282G>T | XP_006715476.1:p.Gly8428Cys | |
| XM_006715414.1:c.25279G>T | XP_006715477.1:p.Gly8427Cys | |
| XM_006715415.1:c.25282G>T | XP_006715478.1:p.Gly8428Cys | |
| XM_006715416.1:c.25267G>T | XP_006715479.1:p.Gly8423Cys | |
| XM_006715417.1:c.25210G>T | XP_006715480.1:p.Gly8404Cys | |
| XM_006715420.1:c.25198G>T | XP_006715483.1:p.Gly8400Cys | |
| XM_006715421.1:c.25195G>T | XP_006715484.1:p.Gly8399Cys | |
| XM_006715422.1:c.25192G>T | XP_006715485.1:p.Gly8398Cys | |
| XM_006715423.1:c.25351G>T | XP_006715486.1:p.Gly8451Cys | |
| XM_006715424.1:c.25351G>T | XP_006715487.1:p.Gly8451Cys | |
| XM_006715425.1:c.25282G>T | XP_006715488.1:p.Gly8428Cys | |
| XM_011535641.1:c.25348G>T | XP_011533943.1:p.Gly8450Cys | |
| XM_011535642.1:c.25336G>T | XP_011533944.1:p.Gly8446Cys | |
| XM_011535643.1:c.25186G>T | XP_011533945.1:p.Gly8396Cys | |
| XM_011535644.1:c.23626G>T | XP_011533946.1:p.Gly7876Cys | |
| XM_011535645.1:c.23119G>T | XP_011533947.1:p.Gly7707Cys | |
| XM_011535647.1:c.18586G>T | XP_011533949.1:p.Gly6196Cys | |
| NM_001347701.1:c.1852G>T | NP_001334630.1:p.Gly618Cys | |
| NM_001347702.1:c.1780G>T | NP_001334631.1:p.Gly594Cys | |
| XM_006715408.2:c.25339G>T | XP_006715471.1:p.Gly8447Cys | |
| XM_006715410.2:c.25351G>T | XP_006715473.1:p.Gly8451Cys | |
| XM_006715412.2:c.25336G>T | XP_006715475.1:p.Gly8446Cys | |
| XM_006715413.2:c.25282G>T | XP_006715476.1:p.Gly8428Cys | |
| XM_006715415.2:c.25282G>T | XP_006715478.1:p.Gly8428Cys | |
| XM_006715416.2:c.25267G>T | XP_006715479.1:p.Gly8423Cys | |
| XM_006715417.2:c.25210G>T | XP_006715480.1:p.Gly8404Cys | |
| XM_006715420.2:c.25198G>T | XP_006715483.1:p.Gly8400Cys | |
| XM_006715421.2:c.25195G>T | XP_006715484.1:p.Gly8399Cys | |
| XM_006715423.2:c.25351G>T | XP_006715486.1:p.Gly8451Cys | |
| XM_006715424.2:c.25351G>T | XP_006715487.1:p.Gly8451Cys | |
| XM_006715425.2:c.25282G>T | XP_006715488.1:p.Gly8428Cys | |
| XM_011535641.2:c.25348G>T | XP_011533943.1:p.Gly8450Cys | |
| XM_011535642.2:c.25336G>T | XP_011533944.1:p.Gly8446Cys | |
| XM_011535645.2:c.23119G>T | XP_011533947.1:p.Gly7707Cys | |
| XM_017010608.1:c.25351G>T | XP_016866097.1:p.Gly8451Cys | |
| XM_017010609.1:c.25351G>T | XP_016866098.1:p.Gly8451Cys | |
| XM_017010610.1:c.25330G>T | XP_016866099.1:p.Gly8444Cys | |
| XM_017010611.2:c.25324G>T | XP_016866100.1:p.Gly8442Cys | |
| XM_017010612.1:c.25273G>T | XP_016866101.1:p.Gly8425Cys | |
| XM_017010613.1:c.25279G>T | XP_016866102.1:p.Gly8427Cys | |
| XM_017010614.1:c.25195G>T | XP_016866103.1:p.Gly8399Cys | |
| XM_017010615.1:c.25126G>T | XP_016866104.1:p.Gly8376Cys | |
| XM_017010616.1:c.25282G>T | XP_016866105.1:p.Gly8428Cys | |
| XM_017010617.1:c.25279G>T | XP_016866106.1:p.Gly8427Cys | |
| XM_017010618.1:c.25267G>T | XP_016866107.1:p.Gly8423Cys | |
| XM_017010619.1:c.23626G>T | XP_016866108.1:p.Gly7876Cys | |
| NM_182961.4:c.25246G>T MANE Select | NP_892006.3:p.Gly8416Cys | |
| NM_001347701.2:c.1852G>T | NP_001334630.1:p.Gly618Cys | |
| NM_001347702.2:c.1780G>T MANE Plus Clinical | NP_001334631.1:p.Gly594Cys | |
| NM_033071.5:c.25102G>T | NP_149062.2:p.Gly8368Cys |