Canonical Allele Identifier: CA136139529

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs754969170
• gnomAD v3: 6-24528319-T-TA
• gnomAD v4: 6-24528319-T-TA
• MyVariant Identifiers: chr6:g.24528547_24528548insA (hg19) ; chr6:g.24528319_24528320insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528326dup , CM000668.2:g.24528326dup	GRCh38
NC_000006.11:g.24528554dup , CM000668.1:g.24528554dup	GRCh37
NC_000006.10:g.24636533dup	NCBI36
NG_008161.1:g.38358dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+160dup MANE Select	ENSP00000350191.3:n.1343+160dup
ENST00000479394.2:n.458+160dup
ENST00000672352.1:c.962+160dup	ENSP00000500876.1:n.962+160dup
ENST00000672652.1:c.1306+160dup
ENST00000348925.2:c.1382+160dup	ENSP00000314649.3:n.1382+160dup
ENST00000357578.7:c.1343+160dup	ENSP00000350191.3:n.1343+160dup
ENST00000479394.1:n.458+160dup
ENST00000491546.5:c.1259+160dup	ENSP00000417687.1:n.1259+160dup
NM_001080.3:c.1343+160dup MANE Select	NP_001071.1:n.1343+160dup
NM_170740.1:c.1382+160dup	NP_733936.1:n.1382+160dup
NM_001368954.1:c.1199+160dup	NP_001355883.1:n.1199+160dup