Canonical Allele Identifier: CA373513346
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396875T>A , CM000671.2:g.38396875T>A GRCh38
NC_000009.11:g.38396872T>A , CM000671.1:g.38396872T>A GRCh37
NC_000009.10:g.38386872T>A NCBI36
NG_012253.1:g.9171T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1127T>A MANE Select ENSP00000366927.3:p.Leu376His
ENST00000377698.3:c.1127T>A ENSP00000366927.3:p.Leu376His
NM_000692.4:c.1127T>A NP_000683.3:p.Leu376His
XM_011517802.1:c.1127T>A XP_011516104.1:p.Leu376His
XM_011517802.2:c.1127T>A XP_011516104.1:p.Leu376His
NM_000692.5:c.1127T>A MANE Select NP_000683.3:p.Leu376His