Canonical Allele Identifier: CA136139462

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 797676
• ClinVar RCV Id: RCV000981146
• dbSNP Id: rs775916984
• gnomAD v3: 6-24528174-C-A
• gnomAD v4: 6-24528174-C-A
• MyVariant Identifiers: chr6:g.24528402C>A (hg19) ; chr6:g.24528174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528174C>A , CM000668.2:g.24528174C>A	GRCh38
NC_000006.11:g.24528402C>A , CM000668.1:g.24528402C>A	GRCh37
NC_000006.10:g.24636381C>A	NCBI36
NG_008161.1:g.38206C>A

Transcript Alleles

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