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.152141205G>T , CM000668.2:g.152141205G>T | GRCh38 |
| NC_000006.11:g.152462340G>T , CM000668.1:g.152462340G>T | GRCh37 |
| NC_000006.10:g.152504033G>T | NCBI36 |
| NG_012855.1:g.501195C>A | |
| NG_012855.2:g.501195C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1778C>A MANE Plus Clinical | ENSP00000346701.4:p.Ala593Asp | |
| ENST00000367255.10:c.25244C>A MANE Select | ENSP00000356224.5:p.Ala8415Asp | |
| ENST00000423061.6:c.25100C>A | ENSP00000396024.1:p.Ala8367Asp | |
| ENST00000672154.1:c.646C>A | ||
| ENST00000672169.1:c.979C>A | ||
| ENST00000673173.1:c.891-1044C>A | ||
| ENST00000673451.1:c.1016C>A | ENSP00000500189.1:p.Ala339Asp | |
| ENST00000341594.9:c.24029C>A | ENSP00000341887.6:p.Ala8010Asp | |
| ENST00000347037.9:n.1992C>A | ||
| ENST00000354674.4:c.1778C>A | ENSP00000346701.4:p.Ala593Asp | |
| ENST00000367251.7:c.4079C>A | ENSP00000356220.3:p.Ala1360Asp | |
| ENST00000367255.9:c.25244C>A | ENSP00000356224.5:p.Ala8415Asp | |
| ENST00000367256.9:n.8936C>A | ||
| ENST00000367257.8:c.3182C>A | ENSP00000356226.4:p.Ala1061Asp | |
| ENST00000409694.6:n.8828C>A | ||
| ENST00000423061.5:c.25100C>A | ENSP00000396024.1:p.Ala8367Asp | |
| ENST00000460912.6:n.1858C>A | ||
| ENST00000478916.5:n.4266C>A | ||
| ENST00000536990.5:n.2081C>A | ||
| ENST00000539504.5:c.1709C>A | ENSP00000441052.1:p.Ala570Asp | |
| NM_033071.3:c.25100C>A | NP_149062.1:p.Ala8367Asp | |
| NM_182961.3:c.25244C>A | NP_892006.3:p.Ala8415Asp | |
| XM_006715407.1:c.25349C>A | XP_006715470.1:p.Ala8450Asp | |
| XM_006715408.1:c.25337C>A | XP_006715471.1:p.Ala8446Asp | |
| XM_006715409.1:c.25328C>A | XP_006715472.1:p.Ala8443Asp | |
| XM_006715410.1:c.25349C>A | XP_006715473.1:p.Ala8450Asp | |
| XM_006715411.1:c.25298C>A | XP_006715474.1:p.Ala8433Asp | |
| XM_006715412.1:c.25334C>A | XP_006715475.1:p.Ala8445Asp | |
| XM_006715413.1:c.25280C>A | XP_006715476.1:p.Ala8427Asp | |
| XM_006715414.1:c.25277C>A | XP_006715477.1:p.Ala8426Asp | |
| XM_006715415.1:c.25280C>A | XP_006715478.1:p.Ala8427Asp | |
| XM_006715416.1:c.25265C>A | XP_006715479.1:p.Ala8422Asp | |
| XM_006715417.1:c.25208C>A | XP_006715480.1:p.Ala8403Asp | |
| XM_006715420.1:c.25196C>A | XP_006715483.1:p.Ala8399Asp | |
| XM_006715421.1:c.25193C>A | XP_006715484.1:p.Ala8398Asp | |
| XM_006715422.1:c.25190C>A | XP_006715485.1:p.Ala8397Asp | |
| XM_006715423.1:c.25349C>A | XP_006715486.1:p.Ala8450Asp | |
| XM_006715424.1:c.25349C>A | XP_006715487.1:p.Ala8450Asp | |
| XM_006715425.1:c.25280C>A | XP_006715488.1:p.Ala8427Asp | |
| XM_011535641.1:c.25346C>A | XP_011533943.1:p.Ala8449Asp | |
| XM_011535642.1:c.25334C>A | XP_011533944.1:p.Ala8445Asp | |
| XM_011535643.1:c.25184C>A | XP_011533945.1:p.Ala8395Asp | |
| XM_011535644.1:c.23624C>A | XP_011533946.1:p.Ala7875Asp | |
| XM_011535645.1:c.23117C>A | XP_011533947.1:p.Ala7706Asp | |
| XM_011535647.1:c.18584C>A | XP_011533949.1:p.Ala6195Asp | |
| NM_001347701.1:c.1850C>A | NP_001334630.1:p.Ala617Asp | |
| NM_001347702.1:c.1778C>A | NP_001334631.1:p.Ala593Asp | |
| XM_006715408.2:c.25337C>A | XP_006715471.1:p.Ala8446Asp | |
| XM_006715410.2:c.25349C>A | XP_006715473.1:p.Ala8450Asp | |
| XM_006715412.2:c.25334C>A | XP_006715475.1:p.Ala8445Asp | |
| XM_006715413.2:c.25280C>A | XP_006715476.1:p.Ala8427Asp | |
| XM_006715415.2:c.25280C>A | XP_006715478.1:p.Ala8427Asp | |
| XM_006715416.2:c.25265C>A | XP_006715479.1:p.Ala8422Asp | |
| XM_006715417.2:c.25208C>A | XP_006715480.1:p.Ala8403Asp | |
| XM_006715420.2:c.25196C>A | XP_006715483.1:p.Ala8399Asp | |
| XM_006715421.2:c.25193C>A | XP_006715484.1:p.Ala8398Asp | |
| XM_006715423.2:c.25349C>A | XP_006715486.1:p.Ala8450Asp | |
| XM_006715424.2:c.25349C>A | XP_006715487.1:p.Ala8450Asp | |
| XM_006715425.2:c.25280C>A | XP_006715488.1:p.Ala8427Asp | |
| XM_011535641.2:c.25346C>A | XP_011533943.1:p.Ala8449Asp | |
| XM_011535642.2:c.25334C>A | XP_011533944.1:p.Ala8445Asp | |
| XM_011535645.2:c.23117C>A | XP_011533947.1:p.Ala7706Asp | |
| XM_017010608.1:c.25349C>A | XP_016866097.1:p.Ala8450Asp | |
| XM_017010609.1:c.25349C>A | XP_016866098.1:p.Ala8450Asp | |
| XM_017010610.1:c.25328C>A | XP_016866099.1:p.Ala8443Asp | |
| XM_017010611.2:c.25322C>A | XP_016866100.1:p.Ala8441Asp | |
| XM_017010612.1:c.25271C>A | XP_016866101.1:p.Ala8424Asp | |
| XM_017010613.1:c.25277C>A | XP_016866102.1:p.Ala8426Asp | |
| XM_017010614.1:c.25193C>A | XP_016866103.1:p.Ala8398Asp | |
| XM_017010615.1:c.25124C>A | XP_016866104.1:p.Ala8375Asp | |
| XM_017010616.1:c.25280C>A | XP_016866105.1:p.Ala8427Asp | |
| XM_017010617.1:c.25277C>A | XP_016866106.1:p.Ala8426Asp | |
| XM_017010618.1:c.25265C>A | XP_016866107.1:p.Ala8422Asp | |
| XM_017010619.1:c.23624C>A | XP_016866108.1:p.Ala7875Asp | |
| NM_182961.4:c.25244C>A MANE Select | NP_892006.3:p.Ala8415Asp | |
| NM_001347701.2:c.1850C>A | NP_001334630.1:p.Ala617Asp | |
| NM_001347702.2:c.1778C>A MANE Plus Clinical | NP_001334631.1:p.Ala593Asp | |
| NM_033071.5:c.25100C>A | NP_149062.2:p.Ala8367Asp |