Canonical Allele Identifier: CA566286747

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1283301782
• gnomAD v2: 6-24528190-CAT-C
• gnomAD v4: 6-24527962-CAT-C
• MyVariant Identifiers: chr6:g.24528191_24528192del (hg19) ; chr6:g.24527963_24527964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24527963_24527964del , CM000668.2:g.24527963_24527964del	GRCh38
NC_000006.11:g.24528191_24528192del , CM000668.1:g.24528191_24528192del	GRCh37
NC_000006.10:g.24636170_24636171del	NCBI36
NG_008161.1:g.37995_37996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1174-34_1174-33del MANE Select	ENSP00000350191.3:n.1174-34_1174-33del
ENST00000479394.2:n.289-34_289-33del
ENST00000672352.1:c.793-34_793-33del	ENSP00000500876.1:n.793-34_793-33del
ENST00000672652.1:c.1137-34_1137-33del
ENST00000348925.2:c.1213-34_1213-33del	ENSP00000314649.3:n.1213-34_1213-33del
ENST00000357578.7:c.1174-34_1174-33del	ENSP00000350191.3:n.1174-34_1174-33del
ENST00000479394.1:n.289-34_289-33del
ENST00000491546.5:c.1090-34_1090-33del	ENSP00000417687.1:n.1090-34_1090-33del
NM_001080.3:c.1174-34_1174-33del MANE Select	NP_001071.1:n.1174-34_1174-33del
NM_170740.1:c.1213-34_1213-33del	NP_733936.1:n.1213-34_1213-33del
NM_001368954.1:c.1030-34_1030-33del	NP_001355883.1:n.1030-34_1030-33del