Canonical Allele Identifier: CA373511253
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396413C>T , CM000671.2:g.38396413C>T GRCh38
NC_000009.11:g.38396410C>T , CM000671.1:g.38396410C>T GRCh37
NC_000009.10:g.38386410C>T NCBI36
NG_012253.1:g.8709C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.665C>T MANE Select ENSP00000366927.3:p.Ala222Val
ENST00000377698.3:c.665C>T ENSP00000366927.3:p.Ala222Val
NM_000692.4:c.665C>T NP_000683.3:p.Ala222Val
XM_011517802.1:c.665C>T XP_011516104.1:p.Ala222Val
XM_011517802.2:c.665C>T XP_011516104.1:p.Ala222Val
NM_000692.5:c.665C>T MANE Select NP_000683.3:p.Ala222Val