Canonical Allele Identifier: CA136127631

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs752683654
• gnomAD v2: 6-24503125-GGTT-G
• gnomAD v3: 6-24502897-GGTT-G
• gnomAD v4: 6-24502897-GGTT-G
• MyVariant Identifiers: chr6:g.24503126_24503128del (hg19) ; chr6:g.24502898_24502900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502901_24502903del , CM000668.2:g.24502901_24502903del	GRCh38
NC_000006.11:g.24503129_24503131del , CM000668.1:g.24503129_24503131del	GRCh37
NC_000006.10:g.24611108_24611110del	NCBI36
NG_008161.1:g.12933_12935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.438+295_438+297del MANE Select	ENSP00000350191.3:n.438+295_438+297del
ENST00000672352.1:c.201+295_201+297del	ENSP00000500876.1:n.201+295_201+297del
ENST00000672557.1:c.356+138_356+140del
ENST00000672652.1:c.359+295_359+297del
ENST00000675422.1:n.1198+295_1198+297del
ENST00000348925.2:c.438+295_438+297del	ENSP00000314649.3:n.438+295_438+297del
ENST00000357578.7:c.438+295_438+297del	ENSP00000350191.3:n.438+295_438+297del
ENST00000491546.5:c.355-362_355-360del	ENSP00000417687.1:n.355-362_355-360del
NM_001080.3:c.438+295_438+297del MANE Select	NP_001071.1:n.438+295_438+297del
NM_170740.1:c.438+295_438+297del	NP_733936.1:n.438+295_438+297del
NM_001368954.1:c.438+295_438+297del	NP_001355883.1:n.438+295_438+297del