Canonical Allele Identifier: CA3656980

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 434122
• ClinVar RCV Id: RCV000499872 ; RCV001151978 ; RCV001571825
• dbSNP Id: rs199767765
• ExAC: 6:24533947 T / C
• gnomAD v2: 6-24533947-T-C
• gnomAD v3: 6-24533719-T-C
• gnomAD v4: 6-24533719-T-C
• MyVariant Identifiers: chr6:g.24533947T>C (hg19) ; chr6:g.24533719T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533719T>C , CM000668.2:g.24533719T>C	GRCh38
NC_000006.11:g.24533947T>C , CM000668.1:g.24533947T>C	GRCh37
NC_000006.10:g.24641926T>C	NCBI36
NG_008161.1:g.43751T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.*7T>C MANE Select	ENSP00000350191.3:n.*7T>C
ENST00000479394.2:n.730T>C
ENST00000672352.1:c.1234T>C	ENSP00000500876.1:n.1234T>C
ENST00000672652.1:c.1578T>C
ENST00000348925.2:c.*7T>C	ENSP00000314649.3:n.*7T>C
ENST00000357578.7:c.*7T>C	ENSP00000350191.3:n.*7T>C
ENST00000479394.1:n.730T>C
ENST00000491546.5:c.*7T>C	ENSP00000417687.1:n.*7T>C
ENST00000492697.1:n.381T>C
NM_001080.3:c.*7T>C MANE Select	NP_001071.1:n.*7T>C
NM_170740.1:c.*7T>C	NP_733936.1:n.*7T>C
NM_001368954.1:c.*7T>C	NP_001355883.1:n.*7T>C