Canonical Allele Identifier: CA373512062
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396602A>T , CM000671.2:g.38396602A>T GRCh38
NC_000009.11:g.38396599A>T , CM000671.1:g.38396599A>T GRCh37
NC_000009.10:g.38386599A>T NCBI36
NG_012253.1:g.8898A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.854A>T MANE Select ENSP00000366927.3:p.Glu285Val
ENST00000377698.3:c.854A>T ENSP00000366927.3:p.Glu285Val
NM_000692.4:c.854A>T NP_000683.3:p.Glu285Val
XM_011517802.1:c.854A>T XP_011516104.1:p.Glu285Val
XM_011517802.2:c.854A>T XP_011516104.1:p.Glu285Val
NM_000692.5:c.854A>T MANE Select NP_000683.3:p.Glu285Val