Canonical Allele Identifier: CA362978468

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528307T>C (hg19) ; chr6:g.24528079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528079T>C , CM000668.2:g.24528079T>C	GRCh38
NC_000006.11:g.24528307T>C , CM000668.1:g.24528307T>C	GRCh37
NC_000006.10:g.24636286T>C	NCBI36
NG_008161.1:g.38111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1256T>C MANE Select	ENSP00000350191.3:p.Phe419Ser
ENST00000479394.2:n.371T>C
ENST00000672352.1:c.875T>C	ENSP00000500876.1:p.Phe292Ser
ENST00000672652.1:c.1219T>C
ENST00000348925.2:c.1295T>C	ENSP00000314649.3:p.Phe432Ser
ENST00000357578.7:c.1256T>C	ENSP00000350191.3:p.Phe419Ser
ENST00000479394.1:n.371T>C
ENST00000491546.5:c.1172T>C	ENSP00000417687.1:p.Phe391Ser
NM_001080.3:c.1256T>C MANE Select	NP_001071.1:p.Phe419Ser
NM_170740.1:c.1295T>C	NP_733936.1:p.Phe432Ser
NM_001368954.1:c.1112T>C	NP_001355883.1:p.Phe371Ser