Canonical Allele Identifier: CA3656703

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 356134
• ClinVar RCV Id: RCV000350772 ; RCV001613179
• dbSNP Id: rs114082057
• ExAC: 6:24505216 G / A
• gnomAD v2: 6-24505216-G-A
• gnomAD v3: 6-24504988-G-A
• gnomAD v4: 6-24504988-G-A
• MyVariant Identifiers: chr6:g.24505216G>A (hg19) ; chr6:g.24504988G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24504988G>A , CM000668.2:g.24504988G>A	GRCh38
NC_000006.11:g.24505216G>A , CM000668.1:g.24505216G>A	GRCh37
NC_000006.10:g.24613195G>A	NCBI36
NG_008161.1:g.15020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.726+3G>A MANE Select	ENSP00000350191.3:n.726+3G>A
ENST00000672352.1:c.489+3G>A	ENSP00000500876.1:n.489+3G>A
ENST00000672557.1:c.644+3G>A
ENST00000672619.1:n.86+3G>A
ENST00000672652.1:c.647+3G>A
ENST00000675422.1:n.1486+3G>A
ENST00000348925.2:c.726+3G>A	ENSP00000314649.3:n.726+3G>A
ENST00000357578.7:c.726+3G>A	ENSP00000350191.3:n.726+3G>A
ENST00000491546.5:c.642+3G>A	ENSP00000417687.1:n.642+3G>A
NM_001080.3:c.726+3G>A MANE Select	NP_001071.1:n.726+3G>A
NM_170740.1:c.726+3G>A	NP_733936.1:n.726+3G>A
NM_001368954.1:c.726+3G>A	NP_001355883.1:n.726+3G>A