Canonical Allele Identifier: CA321673

Gene: ALDH1B1

Linked Data

• ClinVar Variation Id: 214116
• ClinVar RCV Id: RCV000197229
• dbSNP Id: rs201132163
• ExAC: 9:38396889 G / A
• gnomAD v2: 9-38396889-G-A
• gnomAD v3: 9-38396892-G-A
• gnomAD v4: 9-38396892-G-A
• COSMIC: COSM4522079
• MyVariant Identifiers: chr9:g.38396889G>A (hg19) ; chr9:g.38396892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38396892G>A , CM000671.2:g.38396892G>A	GRCh38
NC_000009.11:g.38396889G>A , CM000671.1:g.38396889G>A	GRCh37
NC_000009.10:g.38386889G>A	NCBI36
NG_012253.1:g.9188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377698.4:c.1144G>A MANE Select	ENSP00000366927.3:p.Ala382Thr
ENST00000377698.3:c.1144G>A	ENSP00000366927.3:p.Ala382Thr
NM_000692.4:c.1144G>A	NP_000683.3:p.Ala382Thr
XM_011517802.1:c.1144G>A	XP_011516104.1:p.Ala382Thr
XM_011517802.2:c.1144G>A	XP_011516104.1:p.Ala382Thr
NM_000692.5:c.1144G>A MANE Select	NP_000683.3:p.Ala382Thr