Canonical Allele Identifier: CA373513474
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396902T>C , CM000671.2:g.38396902T>C GRCh38
NC_000009.11:g.38396899T>C , CM000671.1:g.38396899T>C GRCh37
NC_000009.10:g.38386899T>C NCBI36
NG_012253.1:g.9198T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1154T>C MANE Select ENSP00000366927.3:p.Leu385Pro
ENST00000377698.3:c.1154T>C ENSP00000366927.3:p.Leu385Pro
NM_000692.4:c.1154T>C NP_000683.3:p.Leu385Pro
XM_011517802.1:c.1154T>C XP_011516104.1:p.Leu385Pro
XM_011517802.2:c.1154T>C XP_011516104.1:p.Leu385Pro
NM_000692.5:c.1154T>C MANE Select NP_000683.3:p.Leu385Pro