Canonical Allele Identifier: CA566286759

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1254135492
• gnomAD v2: 6-24528439-A-C
• gnomAD v4: 6-24528211-A-C
• MyVariant Identifiers: chr6:g.24528439A>C (hg19) ; chr6:g.24528211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528211A>C , CM000668.2:g.24528211A>C	GRCh38
NC_000006.11:g.24528439A>C , CM000668.1:g.24528439A>C	GRCh37
NC_000006.10:g.24636418A>C	NCBI36
NG_008161.1:g.38243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+45A>C MANE Select	ENSP00000350191.3:n.1343+45A>C
ENST00000479394.2:n.458+45A>C
ENST00000672352.1:c.962+45A>C	ENSP00000500876.1:n.962+45A>C
ENST00000672652.1:c.1306+45A>C
ENST00000348925.2:c.1382+45A>C	ENSP00000314649.3:n.1382+45A>C
ENST00000357578.7:c.1343+45A>C	ENSP00000350191.3:n.1343+45A>C
ENST00000479394.1:n.458+45A>C
ENST00000491546.5:c.1259+45A>C	ENSP00000417687.1:n.1259+45A>C
NM_001080.3:c.1343+45A>C MANE Select	NP_001071.1:n.1343+45A>C
NM_170740.1:c.1382+45A>C	NP_733936.1:n.1382+45A>C
NM_001368954.1:c.1199+45A>C	NP_001355883.1:n.1199+45A>C