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.152143647C>A , CM000668.2:g.152143647C>A | GRCh38 |
| NC_000006.11:g.152464782C>A , CM000668.1:g.152464782C>A | GRCh37 |
| NC_000006.10:g.152506475C>A | NCBI36 |
| NG_012855.1:g.498753G>T | |
| NG_012855.2:g.498753G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1629G>T MANE Plus Clinical | ENSP00000346701.4:p.Glu543Asp | |
| ENST00000367255.10:c.25095G>T MANE Select | ENSP00000356224.5:p.Glu8365Asp | |
| ENST00000423061.6:c.24951G>T | ENSP00000396024.1:p.Glu8317Asp | |
| ENST00000672154.1:c.497G>T | ||
| ENST00000672169.1:c.830G>T | ||
| ENST00000673173.1:c.891-3486G>T | ||
| ENST00000673451.1:c.867G>T | ENSP00000500189.1:p.Glu289Asp | |
| ENST00000341594.9:c.23880G>T | ENSP00000341887.6:p.Glu7960Asp | |
| ENST00000347037.9:n.1843G>T | ||
| ENST00000354674.4:c.1629G>T | ENSP00000346701.4:p.Glu543Asp | |
| ENST00000367251.7:c.3930G>T | ENSP00000356220.3:p.Glu1310Asp | |
| ENST00000367255.9:c.25095G>T | ENSP00000356224.5:p.Glu8365Asp | |
| ENST00000367256.9:n.8787G>T | ||
| ENST00000367257.8:c.3033G>T | ENSP00000356226.4:p.Glu1011Asp | |
| ENST00000409694.6:n.8679G>T | ||
| ENST00000423061.5:c.24951G>T | ENSP00000396024.1:p.Glu8317Asp | |
| ENST00000460912.6:n.1709G>T | ||
| ENST00000478916.5:n.4117G>T | ||
| ENST00000536990.5:n.1932G>T | ||
| ENST00000539504.5:c.1560G>T | ENSP00000441052.1:p.Glu520Asp | |
| NM_033071.3:c.24951G>T | NP_149062.1:p.Glu8317Asp | |
| NM_182961.3:c.25095G>T | NP_892006.3:p.Glu8365Asp | |
| XM_006715407.1:c.25200G>T | XP_006715470.1:p.Glu8400Asp | |
| XM_006715408.1:c.25188G>T | XP_006715471.1:p.Glu8396Asp | |
| XM_006715409.1:c.25179G>T | XP_006715472.1:p.Glu8393Asp | |
| XM_006715410.1:c.25200G>T | XP_006715473.1:p.Glu8400Asp | |
| XM_006715411.1:c.25149G>T | XP_006715474.1:p.Glu8383Asp | |
| XM_006715412.1:c.25185G>T | XP_006715475.1:p.Glu8395Asp | |
| XM_006715413.1:c.25131G>T | XP_006715476.1:p.Glu8377Asp | |
| XM_006715414.1:c.25128G>T | XP_006715477.1:p.Glu8376Asp | |
| XM_006715415.1:c.25131G>T | XP_006715478.1:p.Glu8377Asp | |
| XM_006715416.1:c.25116G>T | XP_006715479.1:p.Glu8372Asp | |
| XM_006715417.1:c.25059G>T | XP_006715480.1:p.Glu8353Asp | |
| XM_006715420.1:c.25047G>T | XP_006715483.1:p.Glu8349Asp | |
| XM_006715421.1:c.25044G>T | XP_006715484.1:p.Glu8348Asp | |
| XM_006715422.1:c.25041G>T | XP_006715485.1:p.Glu8347Asp | |
| XM_006715423.1:c.25200G>T | XP_006715486.1:p.Glu8400Asp | |
| XM_006715424.1:c.25200G>T | XP_006715487.1:p.Glu8400Asp | |
| XM_006715425.1:c.25131G>T | XP_006715488.1:p.Glu8377Asp | |
| XM_011535641.1:c.25197G>T | XP_011533943.1:p.Glu8399Asp | |
| XM_011535642.1:c.25185G>T | XP_011533944.1:p.Glu8395Asp | |
| XM_011535643.1:c.25035G>T | XP_011533945.1:p.Glu8345Asp | |
| XM_011535644.1:c.23475G>T | XP_011533946.1:p.Glu7825Asp | |
| XM_011535645.1:c.22968G>T | XP_011533947.1:p.Glu7656Asp | |
| XM_011535647.1:c.18435G>T | XP_011533949.1:p.Glu6145Asp | |
| NM_001347701.1:c.1701G>T | NP_001334630.1:p.Glu567Asp | |
| NM_001347702.1:c.1629G>T | NP_001334631.1:p.Glu543Asp | |
| XM_006715408.2:c.25188G>T | XP_006715471.1:p.Glu8396Asp | |
| XM_006715410.2:c.25200G>T | XP_006715473.1:p.Glu8400Asp | |
| XM_006715412.2:c.25185G>T | XP_006715475.1:p.Glu8395Asp | |
| XM_006715413.2:c.25131G>T | XP_006715476.1:p.Glu8377Asp | |
| XM_006715415.2:c.25131G>T | XP_006715478.1:p.Glu8377Asp | |
| XM_006715416.2:c.25116G>T | XP_006715479.1:p.Glu8372Asp | |
| XM_006715417.2:c.25059G>T | XP_006715480.1:p.Glu8353Asp | |
| XM_006715420.2:c.25047G>T | XP_006715483.1:p.Glu8349Asp | |
| XM_006715421.2:c.25044G>T | XP_006715484.1:p.Glu8348Asp | |
| XM_006715423.2:c.25200G>T | XP_006715486.1:p.Glu8400Asp | |
| XM_006715424.2:c.25200G>T | XP_006715487.1:p.Glu8400Asp | |
| XM_006715425.2:c.25131G>T | XP_006715488.1:p.Glu8377Asp | |
| XM_011535641.2:c.25197G>T | XP_011533943.1:p.Glu8399Asp | |
| XM_011535642.2:c.25185G>T | XP_011533944.1:p.Glu8395Asp | |
| XM_011535645.2:c.22968G>T | XP_011533947.1:p.Glu7656Asp | |
| XM_017010608.1:c.25200G>T | XP_016866097.1:p.Glu8400Asp | |
| XM_017010609.1:c.25200G>T | XP_016866098.1:p.Glu8400Asp | |
| XM_017010610.1:c.25179G>T | XP_016866099.1:p.Glu8393Asp | |
| XM_017010611.2:c.25173G>T | XP_016866100.1:p.Glu8391Asp | |
| XM_017010612.1:c.25122G>T | XP_016866101.1:p.Glu8374Asp | |
| XM_017010613.1:c.25128G>T | XP_016866102.1:p.Glu8376Asp | |
| XM_017010614.1:c.25044G>T | XP_016866103.1:p.Glu8348Asp | |
| XM_017010615.1:c.24975G>T | XP_016866104.1:p.Glu8325Asp | |
| XM_017010616.1:c.25131G>T | XP_016866105.1:p.Glu8377Asp | |
| XM_017010617.1:c.25128G>T | XP_016866106.1:p.Glu8376Asp | |
| XM_017010618.1:c.25116G>T | XP_016866107.1:p.Glu8372Asp | |
| XM_017010619.1:c.23475G>T | XP_016866108.1:p.Glu7825Asp | |
| NM_182961.4:c.25095G>T MANE Select | NP_892006.3:p.Glu8365Asp | |
| NM_001347701.2:c.1701G>T | NP_001334630.1:p.Glu567Asp | |
| NM_001347702.2:c.1629G>T MANE Plus Clinical | NP_001334631.1:p.Glu543Asp | |
| NM_033071.5:c.24951G>T | NP_149062.2:p.Glu8317Asp |