Canonical Allele Identifier: CA448787730

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528379_24528380insTCATGTAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528151_24528152insTCATGTAA , CM000668.2:g.24528151_24528152insTCATGTAA	GRCh38
NC_000006.11:g.24528379_24528380insTCATGTAA , CM000668.1:g.24528379_24528380insTCATGTAA	GRCh37
NC_000006.10:g.24636358_24636359insTCATGTAA	NCBI36
NG_008161.1:g.38183_38184insTCATGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1328_1329insTCATGTAA MANE Select	ENSP00000350191.3:p.Ala444HisfsTer16
ENST00000479394.2:n.443_444insTCATGTAA
ENST00000672352.1:c.947_948insTCATGTAA	ENSP00000500876.1:p.Ala317HisfsTer16
ENST00000672652.1:c.1291_1292insTCATGTAA
ENST00000348925.2:c.1367_1368insTCATGTAA	ENSP00000314649.3:p.Ala457HisfsTer16
ENST00000357578.7:c.1328_1329insTCATGTAA	ENSP00000350191.3:p.Ala444HisfsTer16
ENST00000479394.1:n.443_444insTCATGTAA
ENST00000491546.5:c.1244_1245insTCATGTAA	ENSP00000417687.1:p.Ala416HisfsTer16
NM_001080.3:c.1328_1329insTCATGTAA MANE Select	NP_001071.1:p.Ala444HisfsTer16
NM_170740.1:c.1367_1368insTCATGTAA	NP_733936.1:p.Ala457HisfsTer16
NM_001368954.1:c.1184_1185insTCATGTAA	NP_001355883.1:p.Ala396HisfsTer16