Canonical Allele Identifier: CA373510462
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396328T>A , CM000671.2:g.38396328T>A GRCh38
NC_000009.11:g.38396325T>A , CM000671.1:g.38396325T>A GRCh37
NC_000009.10:g.38386325T>A NCBI36
NG_012253.1:g.8624T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.580T>A MANE Select ENSP00000366927.3:p.Trp194Arg
ENST00000377698.3:c.580T>A ENSP00000366927.3:p.Trp194Arg
NM_000692.4:c.580T>A NP_000683.3:p.Trp194Arg
XM_011517802.1:c.580T>A XP_011516104.1:p.Trp194Arg
XM_011517802.2:c.580T>A XP_011516104.1:p.Trp194Arg
NM_000692.5:c.580T>A MANE Select NP_000683.3:p.Trp194Arg