Canonical Allele Identifier: CA373513464
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396899T>A , CM000671.2:g.38396899T>A GRCh38
NC_000009.11:g.38396896T>A , CM000671.1:g.38396896T>A GRCh37
NC_000009.10:g.38386896T>A NCBI36
NG_012253.1:g.9195T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1151T>A MANE Select ENSP00000366927.3:p.Leu384His
ENST00000377698.3:c.1151T>A ENSP00000366927.3:p.Leu384His
NM_000692.4:c.1151T>A NP_000683.3:p.Leu384His
XM_011517802.1:c.1151T>A XP_011516104.1:p.Leu384His
XM_011517802.2:c.1151T>A XP_011516104.1:p.Leu384His
NM_000692.5:c.1151T>A MANE Select NP_000683.3:p.Leu384His