Canonical Allele Identifier: CA373512785
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396751T>A , CM000671.2:g.38396751T>A GRCh38
NC_000009.11:g.38396748T>A , CM000671.1:g.38396748T>A GRCh37
NC_000009.10:g.38386748T>A NCBI36
NG_012253.1:g.9047T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1003T>A MANE Select ENSP00000366927.3:p.Phe335Ile
ENST00000377698.3:c.1003T>A ENSP00000366927.3:p.Phe335Ile
NM_000692.4:c.1003T>A NP_000683.3:p.Phe335Ile
XM_011517802.1:c.1003T>A XP_011516104.1:p.Phe335Ile
XM_011517802.2:c.1003T>A XP_011516104.1:p.Phe335Ile
NM_000692.5:c.1003T>A MANE Select NP_000683.3:p.Phe335Ile