Canonical Allele Identifier: CA373511343
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396436T>A , CM000671.2:g.38396436T>A GRCh38
NC_000009.11:g.38396433T>A , CM000671.1:g.38396433T>A GRCh37
NC_000009.10:g.38386433T>A NCBI36
NG_012253.1:g.8732T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.688T>A MANE Select ENSP00000366927.3:p.Phe230Ile
ENST00000377698.3:c.688T>A ENSP00000366927.3:p.Phe230Ile
NM_000692.4:c.688T>A NP_000683.3:p.Phe230Ile
XM_011517802.1:c.688T>A XP_011516104.1:p.Phe230Ile
XM_011517802.2:c.688T>A XP_011516104.1:p.Phe230Ile
NM_000692.5:c.688T>A MANE Select NP_000683.3:p.Phe230Ile