Canonical Allele Identifier: CA5064013
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs760774339
gnomAD v2: 9-38396674-C-A
gnomAD v4: 9-38396677-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396677C>A , CM000671.2:g.38396677C>A GRCh38
NC_000009.11:g.38396674C>A , CM000671.1:g.38396674C>A GRCh37
NC_000009.10:g.38386674C>A NCBI36
NG_012253.1:g.8973C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.929C>A MANE Select ENSP00000366927.3:p.Ala310Asp
ENST00000377698.3:c.929C>A ENSP00000366927.3:p.Ala310Asp
NM_000692.4:c.929C>A NP_000683.3:p.Ala310Asp
XM_011517802.1:c.929C>A XP_011516104.1:p.Ala310Asp
XM_011517802.2:c.929C>A XP_011516104.1:p.Ala310Asp
NM_000692.5:c.929C>A MANE Select NP_000683.3:p.Ala310Asp