Canonical Allele Identifier: CA823302066

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs4646848
• gnomAD v3: 6-24527903-GAA-G
• gnomAD v4: 6-24527903-GAA-G
• MyVariant Identifiers: chr6:g.24528132_24528133del (hg19) ; chr6:g.24527904_24527905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24527911_24527912del , CM000668.2:g.24527911_24527912del	GRCh38
NC_000006.11:g.24528139_24528140del , CM000668.1:g.24528139_24528140del	GRCh37
NC_000006.10:g.24636118_24636119del	NCBI36
NG_008161.1:g.37943_37944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1174-86_1174-85del MANE Select	ENSP00000350191.3:n.1174-86_1174-85del
ENST00000479394.2:n.289-86_289-85del
ENST00000672352.1:c.793-86_793-85del	ENSP00000500876.1:n.793-86_793-85del
ENST00000672652.1:c.1137-86_1137-85del
ENST00000348925.2:c.1213-86_1213-85del	ENSP00000314649.3:n.1213-86_1213-85del
ENST00000357578.7:c.1174-86_1174-85del	ENSP00000350191.3:n.1174-86_1174-85del
ENST00000479394.1:n.289-86_289-85del
ENST00000491546.5:c.1090-86_1090-85del	ENSP00000417687.1:n.1090-86_1090-85del
NM_001080.3:c.1174-86_1174-85del MANE Select	NP_001071.1:n.1174-86_1174-85del
NM_170740.1:c.1213-86_1213-85del	NP_733936.1:n.1213-86_1213-85del
NM_001368954.1:c.1030-86_1030-85del	NP_001355883.1:n.1030-86_1030-85del