Canonical Allele Identifier: CA373511962
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396583C>A , CM000671.2:g.38396583C>A GRCh38
NC_000009.11:g.38396580C>A , CM000671.1:g.38396580C>A GRCh37
NC_000009.10:g.38386580C>A NCBI36
NG_012253.1:g.8879C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.835C>A MANE Select ENSP00000366927.3:p.Leu279Ile
ENST00000377698.3:c.835C>A ENSP00000366927.3:p.Leu279Ile
NM_000692.4:c.835C>A NP_000683.3:p.Leu279Ile
XM_011517802.1:c.835C>A XP_011516104.1:p.Leu279Ile
XM_011517802.2:c.835C>A XP_011516104.1:p.Leu279Ile
NM_000692.5:c.835C>A MANE Select NP_000683.3:p.Leu279Ile