Canonical Allele Identifier: CA2573140169

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1568225
• ClinVar RCV Id: RCV002216884
• dbSNP Id: rs2127389592

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528181C>T , CM000668.2:g.24528181C>T	GRCh38
NC_000006.11:g.24528409C>T , CM000668.1:g.24528409C>T	GRCh37
NC_000006.10:g.24636388C>T	NCBI36
NG_008161.1:g.38213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+15C>T MANE Select	ENSP00000350191.3:n.1343+15C>T
ENST00000479394.2:n.458+15C>T
ENST00000672352.1:c.962+15C>T	ENSP00000500876.1:n.962+15C>T
ENST00000672652.1:c.1306+15C>T
ENST00000348925.2:c.1382+15C>T	ENSP00000314649.3:n.1382+15C>T
ENST00000357578.7:c.1343+15C>T	ENSP00000350191.3:n.1343+15C>T
ENST00000479394.1:n.458+15C>T
ENST00000491546.5:c.1259+15C>T	ENSP00000417687.1:n.1259+15C>T
NM_001080.3:c.1343+15C>T MANE Select	NP_001071.1:n.1343+15C>T
NM_170740.1:c.1382+15C>T	NP_733936.1:n.1382+15C>T
NM_001368954.1:c.1199+15C>T	NP_001355883.1:n.1199+15C>T