Canonical Allele Identifier: CA362978947

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528370T>G (hg19) ; chr6:g.24528142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528142T>G , CM000668.2:g.24528142T>G	GRCh38
NC_000006.11:g.24528370T>G , CM000668.1:g.24528370T>G	GRCh37
NC_000006.10:g.24636349T>G	NCBI36
NG_008161.1:g.38174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1319T>G MANE Select	ENSP00000350191.3:p.Phe440Cys
ENST00000479394.2:n.434T>G
ENST00000672352.1:c.938T>G	ENSP00000500876.1:p.Phe313Cys
ENST00000672652.1:c.1282T>G
ENST00000348925.2:c.1358T>G	ENSP00000314649.3:p.Phe453Cys
ENST00000357578.7:c.1319T>G	ENSP00000350191.3:p.Phe440Cys
ENST00000479394.1:n.434T>G
ENST00000491546.5:c.1235T>G	ENSP00000417687.1:p.Phe412Cys
NM_001080.3:c.1319T>G MANE Select	NP_001071.1:p.Phe440Cys
NM_170740.1:c.1358T>G	NP_733936.1:p.Phe453Cys
NM_001368954.1:c.1175T>G	NP_001355883.1:p.Phe392Cys