Canonical Allele Identifier: CA566286687

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1184463572
• gnomAD v2: 6-24503581-G-GAC
• gnomAD v4: 6-24503353-G-GAC
• MyVariant Identifiers: chr6:g.24503581_24503582insAC (hg19) ; chr6:g.24503353_24503354insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503355_24503356dup , CM000668.2:g.24503355_24503356dup	GRCh38
NC_000006.11:g.24503583_24503584dup , CM000668.1:g.24503583_24503584dup	GRCh37
NC_000006.10:g.24611562_24611563dup	NCBI36
NG_008161.1:g.13387_13388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.531_532dup MANE Select	ENSP00000350191.3:p.Ile178ThrfsTer19
ENST00000672352.1:c.294_295dup	ENSP00000500876.1:p.Ile99ThrfsTer19
ENST00000672557.1:c.449_450dup
ENST00000672652.1:c.452_453dup
ENST00000675422.1:n.1291_1292dup
ENST00000348925.2:c.531_532dup	ENSP00000314649.3:p.Ile178ThrfsTer19
ENST00000357578.7:c.531_532dup	ENSP00000350191.3:p.Ile178ThrfsTer19
ENST00000491546.5:c.447_448dup	ENSP00000417687.1:p.Ile150ThrfsTer19
NM_001080.3:c.531_532dup MANE Select	NP_001071.1:p.Ile178ThrfsTer19
NM_170740.1:c.531_532dup	NP_733936.1:p.Ile178ThrfsTer19
NM_001368954.1:c.531_532dup	NP_001355883.1:p.Ile178ThrfsTer19