Canonical Allele Identifier: CA566286762

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1238187880
• gnomAD v2: 6-24528495-G-GCAGA
• gnomAD v3: 6-24528267-G-GCAGA
• gnomAD v4: 6-24528267-G-GCAGA
• MyVariant Identifiers: chr6:g.24528495_24528496insCAGA (hg19) ; chr6:g.24528267_24528268insCAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528271_24528274dup , CM000668.2:g.24528271_24528274dup	GRCh38
NC_000006.11:g.24528499_24528502dup , CM000668.1:g.24528499_24528502dup	GRCh37
NC_000006.10:g.24636478_24636481dup	NCBI36
NG_008161.1:g.38303_38306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+105_1343+108dup MANE Select	ENSP00000350191.3:n.1343+105_1343+108dup
ENST00000479394.2:n.458+105_458+108dup
ENST00000672352.1:c.962+105_962+108dup	ENSP00000500876.1:n.962+105_962+108dup
ENST00000672652.1:c.1306+105_1306+108dup
ENST00000348925.2:c.1382+105_1382+108dup	ENSP00000314649.3:n.1382+105_1382+108dup
ENST00000357578.7:c.1343+105_1343+108dup	ENSP00000350191.3:n.1343+105_1343+108dup
ENST00000479394.1:n.458+105_458+108dup
ENST00000491546.5:c.1259+105_1259+108dup	ENSP00000417687.1:n.1259+105_1259+108dup
NM_001080.3:c.1343+105_1343+108dup MANE Select	NP_001071.1:n.1343+105_1343+108dup
NM_170740.1:c.1382+105_1382+108dup	NP_733936.1:n.1382+105_1382+108dup
NM_001368954.1:c.1199+105_1199+108dup	NP_001355883.1:n.1199+105_1199+108dup