Canonical Allele Identifier: CA289398

Gene: ALDH1B1

Linked Data

• ClinVar Variation Id: 136365
• ClinVar RCV Id: RCV000123610
• dbSNP Id: rs4878199
• ExAC: 9:38396502 G / A
• gnomAD v2: 9-38396502-G-A
• gnomAD v3: 9-38396505-G-A
• gnomAD v4: 9-38396505-G-A
• MyVariant Identifiers: chr9:g.38396502G>A (hg19) ; chr9:g.38396505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38396505G>A , CM000671.2:g.38396505G>A	GRCh38
NC_000009.11:g.38396502G>A , CM000671.1:g.38396502G>A	GRCh37
NC_000009.10:g.38386502G>A	NCBI36
NG_012253.1:g.8801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377698.4:c.757G>A MANE Select	ENSP00000366927.3:p.Val253Met
ENST00000377698.3:c.757G>A	ENSP00000366927.3:p.Val253Met
NM_000692.4:c.757G>A	NP_000683.3:p.Val253Met
XM_011517802.1:c.757G>A	XP_011516104.1:p.Val253Met
XM_011517802.2:c.757G>A	XP_011516104.1:p.Val253Met
NM_000692.5:c.757G>A MANE Select	NP_000683.3:p.Val253Met