Canonical Allele Identifier: CA1616510624

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1559508
• ClinVar RCV Id: RCV002202902
• dbSNP Id: rs1759252599

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503448C>T , CM000668.2:g.24503448C>T	GRCh38
NC_000006.11:g.24503676C>T , CM000668.1:g.24503676C>T	GRCh37
NC_000006.10:g.24611655C>T	NCBI36
NG_008161.1:g.13480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.609+15C>T MANE Select	ENSP00000350191.3:n.609+15C>T
ENST00000672352.1:c.372+15C>T	ENSP00000500876.1:n.372+15C>T
ENST00000672557.1:c.527+15C>T
ENST00000672652.1:c.530+15C>T
ENST00000675422.1:n.1369+15C>T
ENST00000348925.2:c.609+15C>T	ENSP00000314649.3:n.609+15C>T
ENST00000357578.7:c.609+15C>T	ENSP00000350191.3:n.609+15C>T
ENST00000491546.5:c.525+15C>T	ENSP00000417687.1:n.525+15C>T
NM_001080.3:c.609+15C>T MANE Select	NP_001071.1:n.609+15C>T
NM_170740.1:c.609+15C>T	NP_733936.1:n.609+15C>T
NM_001368954.1:c.609+15C>T	NP_001355883.1:n.609+15C>T