Canonical Allele Identifier: CA465127787
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1821305638
gnomAD v3: 9-38396927-G-A
gnomAD v4: 9-38396927-G-A
MyVariant Identifiers: chr9:g.38396924G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396927G>A , CM000671.2:g.38396927G>A GRCh38
NC_000009.11:g.38396924G>A , CM000671.1:g.38396924G>A GRCh37
NC_000009.10:g.38386924G>A NCBI36
NG_012253.1:g.9223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1179G>A MANE Select ENSP00000366927.3:p.Glu393=
ENST00000377698.3:c.1179G>A ENSP00000366927.3:p.Glu393=
NM_000692.4:c.1179G>A NP_000683.3:p.Glu393=
XM_011517802.1:c.1179G>A XP_011516104.1:p.Glu393=
XM_011517802.2:c.1179G>A XP_011516104.1:p.Glu393=
NM_000692.5:c.1179G>A MANE Select NP_000683.3:p.Glu393=