Canonical Allele Identifier: CA136127633

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs4646836
• gnomAD v2: 6-24503129-GT-G
• gnomAD v3: 6-24502901-GT-G
• gnomAD v4: 6-24502901-GT-G
• MyVariant Identifiers: chr6:g.24503130del (hg19) ; chr6:g.24502902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502912del , CM000668.2:g.24502912del	GRCh38
NC_000006.11:g.24503140del , CM000668.1:g.24503140del	GRCh37
NC_000006.10:g.24611119del	NCBI36
NG_008161.1:g.12944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.438+306del MANE Select	ENSP00000350191.3:n.438+306del
ENST00000672352.1:c.201+306del	ENSP00000500876.1:n.201+306del
ENST00000672557.1:c.356+149del
ENST00000672652.1:c.359+306del
ENST00000675422.1:n.1198+306del
ENST00000348925.2:c.438+306del	ENSP00000314649.3:n.438+306del
ENST00000357578.7:c.438+306del	ENSP00000350191.3:n.438+306del
ENST00000491546.5:c.355-351del	ENSP00000417687.1:n.355-351del
NM_001080.3:c.438+306del MANE Select	NP_001071.1:n.438+306del
NM_170740.1:c.438+306del	NP_733936.1:n.438+306del
NM_001368954.1:c.438+306del	NP_001355883.1:n.438+306del