Canonical Allele Identifier: CA5063936

Gene: ALDH1B1

Linked Data

• dbSNP Id: rs367927705
• ExAC: 9:38396339 G / A
• gnomAD v2: 9-38396339-G-A
• gnomAD v3: 9-38396342-G-A
• gnomAD v4: 9-38396342-G-A
• MyVariant Identifiers: chr9:g.38396339G>A (hg19) ; chr9:g.38396342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38396342G>A , CM000671.2:g.38396342G>A	GRCh38
NC_000009.11:g.38396339G>A , CM000671.1:g.38396339G>A	GRCh37
NC_000009.10:g.38386339G>A	NCBI36
NG_012253.1:g.8638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377698.4:c.594G>A MANE Select	ENSP00000366927.3:p.Pro198=
ENST00000377698.3:c.594G>A	ENSP00000366927.3:p.Pro198=
NM_000692.4:c.594G>A	NP_000683.3:p.Pro198=
XM_011517802.1:c.594G>A	XP_011516104.1:p.Pro198=
XM_011517802.2:c.594G>A	XP_011516104.1:p.Pro198=
NM_000692.5:c.594G>A MANE Select	NP_000683.3:p.Pro198=