Canonical Allele Identifier: CA2543647208

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502906T>G , CM000668.2:g.24502906T>G	GRCh38
NC_000006.11:g.24503134T>G , CM000668.1:g.24503134T>G	GRCh37
NC_000006.10:g.24611113T>G	NCBI36
NG_008161.1:g.12938T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.438+300T>G MANE Select	ENSP00000350191.3:n.438+300T>G
ENST00000672352.1:c.201+300T>G	ENSP00000500876.1:n.201+300T>G
ENST00000672557.1:c.356+143T>G
ENST00000672652.1:c.359+300T>G
ENST00000675422.1:n.1198+300T>G
ENST00000348925.2:c.438+300T>G	ENSP00000314649.3:n.438+300T>G
ENST00000357578.7:c.438+300T>G	ENSP00000350191.3:n.438+300T>G
ENST00000491546.5:c.355-357T>G	ENSP00000417687.1:n.355-357T>G
NM_001080.3:c.438+300T>G MANE Select	NP_001071.1:n.438+300T>G
NM_170740.1:c.438+300T>G	NP_733936.1:n.438+300T>G
NM_001368954.1:c.438+300T>G	NP_001355883.1:n.438+300T>G