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.152143634A>C , CM000668.2:g.152143634A>C | GRCh38 |
| NC_000006.11:g.152464769A>C , CM000668.1:g.152464769A>C | GRCh37 |
| NC_000006.10:g.152506462A>C | NCBI36 |
| NG_012855.1:g.498766T>G | |
| NG_012855.2:g.498766T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1642T>G MANE Plus Clinical | ENSP00000346701.4:p.Tyr548Asp | |
| ENST00000367255.10:c.25108T>G MANE Select | ENSP00000356224.5:p.Tyr8370Asp | |
| ENST00000423061.6:c.24964T>G | ENSP00000396024.1:p.Tyr8322Asp | |
| ENST00000672154.1:c.510T>G | ||
| ENST00000672169.1:c.843T>G | ||
| ENST00000673173.1:c.891-3473T>G | ||
| ENST00000673451.1:c.880T>G | ENSP00000500189.1:p.Tyr294Asp | |
| ENST00000341594.9:c.23893T>G | ENSP00000341887.6:p.Tyr7965Asp | |
| ENST00000347037.9:n.1856T>G | ||
| ENST00000354674.4:c.1642T>G | ENSP00000346701.4:p.Tyr548Asp | |
| ENST00000367251.7:c.3943T>G | ENSP00000356220.3:p.Tyr1315Asp | |
| ENST00000367255.9:c.25108T>G | ENSP00000356224.5:p.Tyr8370Asp | |
| ENST00000367256.9:n.8800T>G | ||
| ENST00000367257.8:c.3046T>G | ENSP00000356226.4:p.Tyr1016Asp | |
| ENST00000409694.6:n.8692T>G | ||
| ENST00000423061.5:c.24964T>G | ENSP00000396024.1:p.Tyr8322Asp | |
| ENST00000460912.6:n.1722T>G | ||
| ENST00000478916.5:n.4130T>G | ||
| ENST00000536990.5:n.1945T>G | ||
| ENST00000539504.5:c.1573T>G | ENSP00000441052.1:p.Tyr525Asp | |
| NM_033071.3:c.24964T>G | NP_149062.1:p.Tyr8322Asp | |
| NM_182961.3:c.25108T>G | NP_892006.3:p.Tyr8370Asp | |
| XM_006715407.1:c.25213T>G | XP_006715470.1:p.Tyr8405Asp | |
| XM_006715408.1:c.25201T>G | XP_006715471.1:p.Tyr8401Asp | |
| XM_006715409.1:c.25192T>G | XP_006715472.1:p.Tyr8398Asp | |
| XM_006715410.1:c.25213T>G | XP_006715473.1:p.Tyr8405Asp | |
| XM_006715411.1:c.25162T>G | XP_006715474.1:p.Tyr8388Asp | |
| XM_006715412.1:c.25198T>G | XP_006715475.1:p.Tyr8400Asp | |
| XM_006715413.1:c.25144T>G | XP_006715476.1:p.Tyr8382Asp | |
| XM_006715414.1:c.25141T>G | XP_006715477.1:p.Tyr8381Asp | |
| XM_006715415.1:c.25144T>G | XP_006715478.1:p.Tyr8382Asp | |
| XM_006715416.1:c.25129T>G | XP_006715479.1:p.Tyr8377Asp | |
| XM_006715417.1:c.25072T>G | XP_006715480.1:p.Tyr8358Asp | |
| XM_006715420.1:c.25060T>G | XP_006715483.1:p.Tyr8354Asp | |
| XM_006715421.1:c.25057T>G | XP_006715484.1:p.Tyr8353Asp | |
| XM_006715422.1:c.25054T>G | XP_006715485.1:p.Tyr8352Asp | |
| XM_006715423.1:c.25213T>G | XP_006715486.1:p.Tyr8405Asp | |
| XM_006715424.1:c.25213T>G | XP_006715487.1:p.Tyr8405Asp | |
| XM_006715425.1:c.25144T>G | XP_006715488.1:p.Tyr8382Asp | |
| XM_011535641.1:c.25210T>G | XP_011533943.1:p.Tyr8404Asp | |
| XM_011535642.1:c.25198T>G | XP_011533944.1:p.Tyr8400Asp | |
| XM_011535643.1:c.25048T>G | XP_011533945.1:p.Tyr8350Asp | |
| XM_011535644.1:c.23488T>G | XP_011533946.1:p.Tyr7830Asp | |
| XM_011535645.1:c.22981T>G | XP_011533947.1:p.Tyr7661Asp | |
| XM_011535647.1:c.18448T>G | XP_011533949.1:p.Tyr6150Asp | |
| NM_001347701.1:c.1714T>G | NP_001334630.1:p.Tyr572Asp | |
| NM_001347702.1:c.1642T>G | NP_001334631.1:p.Tyr548Asp | |
| XM_006715408.2:c.25201T>G | XP_006715471.1:p.Tyr8401Asp | |
| XM_006715410.2:c.25213T>G | XP_006715473.1:p.Tyr8405Asp | |
| XM_006715412.2:c.25198T>G | XP_006715475.1:p.Tyr8400Asp | |
| XM_006715413.2:c.25144T>G | XP_006715476.1:p.Tyr8382Asp | |
| XM_006715415.2:c.25144T>G | XP_006715478.1:p.Tyr8382Asp | |
| XM_006715416.2:c.25129T>G | XP_006715479.1:p.Tyr8377Asp | |
| XM_006715417.2:c.25072T>G | XP_006715480.1:p.Tyr8358Asp | |
| XM_006715420.2:c.25060T>G | XP_006715483.1:p.Tyr8354Asp | |
| XM_006715421.2:c.25057T>G | XP_006715484.1:p.Tyr8353Asp | |
| XM_006715423.2:c.25213T>G | XP_006715486.1:p.Tyr8405Asp | |
| XM_006715424.2:c.25213T>G | XP_006715487.1:p.Tyr8405Asp | |
| XM_006715425.2:c.25144T>G | XP_006715488.1:p.Tyr8382Asp | |
| XM_011535641.2:c.25210T>G | XP_011533943.1:p.Tyr8404Asp | |
| XM_011535642.2:c.25198T>G | XP_011533944.1:p.Tyr8400Asp | |
| XM_011535645.2:c.22981T>G | XP_011533947.1:p.Tyr7661Asp | |
| XM_017010608.1:c.25213T>G | XP_016866097.1:p.Tyr8405Asp | |
| XM_017010609.1:c.25213T>G | XP_016866098.1:p.Tyr8405Asp | |
| XM_017010610.1:c.25192T>G | XP_016866099.1:p.Tyr8398Asp | |
| XM_017010611.2:c.25186T>G | XP_016866100.1:p.Tyr8396Asp | |
| XM_017010612.1:c.25135T>G | XP_016866101.1:p.Tyr8379Asp | |
| XM_017010613.1:c.25141T>G | XP_016866102.1:p.Tyr8381Asp | |
| XM_017010614.1:c.25057T>G | XP_016866103.1:p.Tyr8353Asp | |
| XM_017010615.1:c.24988T>G | XP_016866104.1:p.Tyr8330Asp | |
| XM_017010616.1:c.25144T>G | XP_016866105.1:p.Tyr8382Asp | |
| XM_017010617.1:c.25141T>G | XP_016866106.1:p.Tyr8381Asp | |
| XM_017010618.1:c.25129T>G | XP_016866107.1:p.Tyr8377Asp | |
| XM_017010619.1:c.23488T>G | XP_016866108.1:p.Tyr7830Asp | |
| NM_182961.4:c.25108T>G MANE Select | NP_892006.3:p.Tyr8370Asp | |
| NM_001347701.2:c.1714T>G | NP_001334630.1:p.Tyr572Asp | |
| NM_001347702.2:c.1642T>G MANE Plus Clinical | NP_001334631.1:p.Tyr548Asp | |
| NM_033071.5:c.24964T>G | NP_149062.2:p.Tyr8322Asp |