Canonical Allele Identifier: CA3656599

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 434120
• ClinVar RCV Id: RCV000503063 ; RCV002060094
• dbSNP Id: rs775932045
• ExAC: 6:24502747 G / C
• gnomAD v2: 6-24502747-G-C
• gnomAD v3: 6-24502519-G-C
• gnomAD v4: 6-24502519-G-C
• MyVariant Identifiers: chr6:g.24502747G>C (hg19) ; chr6:g.24502519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502519G>C , CM000668.2:g.24502519G>C	GRCh38
NC_000006.11:g.24502747G>C , CM000668.1:g.24502747G>C	GRCh37
NC_000006.10:g.24610726G>C	NCBI36
NG_008161.1:g.12551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.355-4G>C MANE Select	ENSP00000350191.3:n.355-4G>C
ENST00000672352.1:c.118-4G>C	ENSP00000500876.1:n.118-4G>C
ENST00000672557.1:c.116-4G>C
ENST00000672652.1:c.276-4G>C
ENST00000675422.1:n.1111G>C
ENST00000348925.2:c.355-4G>C	ENSP00000314649.3:n.355-4G>C
ENST00000357578.7:c.355-4G>C	ENSP00000350191.3:n.355-4G>C
ENST00000491546.5:c.355-744G>C	ENSP00000417687.1:n.355-744G>C
NM_001080.3:c.355-4G>C MANE Select	NP_001071.1:n.355-4G>C
NM_170740.1:c.355-4G>C	NP_733936.1:n.355-4G>C
NM_001368954.1:c.355-4G>C	NP_001355883.1:n.355-4G>C