Canonical Allele Identifier: CA362978341

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 659793
• ClinVar RCV Id: RCV000816848
• dbSNP Id: rs1581824124
• MyVariant Identifiers: chr6:g.24528294C>A (hg19) ; chr6:g.24528066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528066C>A , CM000668.2:g.24528066C>A	GRCh38
NC_000006.11:g.24528294C>A , CM000668.1:g.24528294C>A	GRCh37
NC_000006.10:g.24636273C>A	NCBI36
NG_008161.1:g.38098C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357578.8:c.1243C>A MANE Select	ENSP00000350191.3:p.Leu415Ile
ENST00000479394.2:n.358C>A
ENST00000672352.1:c.862C>A	ENSP00000500876.1:p.Leu288Ile
ENST00000672652.1:c.1206C>A
ENST00000348925.2:c.1282C>A	ENSP00000314649.3:p.Leu428Ile
ENST00000357578.7:c.1243C>A	ENSP00000350191.3:p.Leu415Ile
ENST00000479394.1:n.358C>A
ENST00000491546.5:c.1159C>A	ENSP00000417687.1:p.Leu387Ile
NM_001080.3:c.1243C>A MANE Select	NP_001071.1:p.Leu415Ile
NM_170740.1:c.1282C>A	NP_733936.1:p.Leu428Ile
NM_001368954.1:c.1099C>A	NP_001355883.1:p.Leu367Ile