Canonical Allele Identifier: CA362969710

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1403597386
• gnomAD v2: 6-24503648-C-T
• gnomAD v4: 6-24503420-C-T
• MyVariant Identifiers: chr6:g.24503648C>T (hg19) ; chr6:g.24503420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503420C>T , CM000668.2:g.24503420C>T	GRCh38
NC_000006.11:g.24503648C>T , CM000668.1:g.24503648C>T	GRCh37
NC_000006.10:g.24611627C>T	NCBI36
NG_008161.1:g.13452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.596C>T MANE Select	ENSP00000350191.3:p.Ala199Val
ENST00000672352.1:c.359C>T	ENSP00000500876.1:p.Ala120Val
ENST00000672557.1:c.514C>T
ENST00000672652.1:c.517C>T
ENST00000675422.1:n.1356C>T
ENST00000348925.2:c.596C>T	ENSP00000314649.3:p.Ala199Val
ENST00000357578.7:c.596C>T	ENSP00000350191.3:p.Ala199Val
ENST00000491546.5:c.512C>T	ENSP00000417687.1:p.Ala171Val
NM_001080.3:c.596C>T MANE Select	NP_001071.1:p.Ala199Val
NM_170740.1:c.596C>T	NP_733936.1:p.Ala199Val
NM_001368954.1:c.596C>T	NP_001355883.1:p.Ala199Val