Canonical Allele Identifier: CA3656619

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs767944053
• ExAC: 6:24503462 T / TA
• gnomAD v2: 6-24503462-T-TA
• gnomAD v3: 6-24503234-T-TA
• gnomAD v4: 6-24503234-T-TA
• MyVariant Identifiers: chr6:g.24503462_24503463insA (hg19) ; chr6:g.24503234_24503235insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503235dup , CM000668.2:g.24503235dup	GRCh38
NC_000006.11:g.24503463dup , CM000668.1:g.24503463dup	GRCh37
NC_000006.10:g.24611442dup	NCBI36
NG_008161.1:g.13267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.439-28dup MANE Select	ENSP00000350191.3:n.439-28dup
ENST00000672352.1:c.202-28dup	ENSP00000500876.1:n.202-28dup
ENST00000672557.1:c.357-28dup
ENST00000672652.1:c.360-28dup
ENST00000675422.1:n.1199-28dup
ENST00000348925.2:c.439-28dup	ENSP00000314649.3:n.439-28dup
ENST00000357578.7:c.439-28dup	ENSP00000350191.3:n.439-28dup
ENST00000491546.5:c.355-28dup	ENSP00000417687.1:n.355-28dup
NM_001080.3:c.439-28dup MANE Select	NP_001071.1:n.439-28dup
NM_170740.1:c.439-28dup	NP_733936.1:n.439-28dup
NM_001368954.1:c.439-28dup	NP_001355883.1:n.439-28dup