Canonical Allele Identifier: CA362968018

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24533940G>T (hg19) ; chr6:g.24533712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533712G>T , CM000668.2:g.24533712G>T	GRCh38
NC_000006.11:g.24533940G>T , CM000668.1:g.24533940G>T	GRCh37
NC_000006.10:g.24641919G>T	NCBI36
NG_008161.1:g.43744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1608G>T MANE Select	ENSP00000350191.3:p.Ter536Tyr
ENST00000479394.2:n.723G>T
ENST00000672352.1:c.1227G>T	ENSP00000500876.1:p.Ter409Tyr
ENST00000672652.1:c.1571G>T
ENST00000348925.2:c.1647G>T	ENSP00000314649.3:p.Ter549Tyr
ENST00000357578.7:c.1608G>T	ENSP00000350191.3:p.Ter536Tyr
ENST00000479394.1:n.723G>T
ENST00000491546.5:c.1524G>T	ENSP00000417687.1:p.Ter508Tyr
ENST00000492697.1:n.374G>T
NM_001080.3:c.1608G>T MANE Select	NP_001071.1:p.Ter536Tyr
NM_170740.1:c.1647G>T	NP_733936.1:p.Ter549Tyr
NM_001368954.1:c.1464G>T	NP_001355883.1:p.Ter488Tyr