Canonical Allele Identifier: CA1086958611

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1759232141
• gnomAD v3: 6-24502904-T-TA
• gnomAD v4: 6-24502904-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502904_24502905insA , CM000668.2:g.24502904_24502905insA	GRCh38
NC_000006.11:g.24503132_24503133insA , CM000668.1:g.24503132_24503133insA	GRCh37
NC_000006.10:g.24611111_24611112insA	NCBI36
NG_008161.1:g.12936_12937insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.438+298_438+299insA MANE Select	ENSP00000350191.3:n.438+298_438+299insA
ENST00000672352.1:c.201+298_201+299insA	ENSP00000500876.1:n.201+298_201+299insA
ENST00000672557.1:c.356+141_356+142insA
ENST00000672652.1:c.359+298_359+299insA
ENST00000675422.1:n.1198+298_1198+299insA
ENST00000348925.2:c.438+298_438+299insA	ENSP00000314649.3:n.438+298_438+299insA
ENST00000357578.7:c.438+298_438+299insA	ENSP00000350191.3:n.438+298_438+299insA
ENST00000491546.5:c.355-359_355-358insA	ENSP00000417687.1:n.355-359_355-358insA
NM_001080.3:c.438+298_438+299insA MANE Select	NP_001071.1:n.438+298_438+299insA
NM_170740.1:c.438+298_438+299insA	NP_733936.1:n.438+298_438+299insA
NM_001368954.1:c.438+298_438+299insA	NP_001355883.1:n.438+298_438+299insA