Canonical Allele Identifier: CA1086958604
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24502911_24502912dup , CM000668.2:g.24502911_24502912dup GRCh38
NC_000006.11:g.24503139_24503140dup , CM000668.1:g.24503139_24503140dup GRCh37
NC_000006.10:g.24611118_24611119dup NCBI36
NG_008161.1:g.12943_12944dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.438+305_438+306dup MANE Select ENSP00000350191.3:n.438+305_438+306dup
ENST00000672352.1:c.201+305_201+306dup ENSP00000500876.1:n.201+305_201+306dup
ENST00000672557.1:c.356+148_356+149dup
ENST00000672652.1:c.359+305_359+306dup
ENST00000675422.1:n.1198+305_1198+306dup
ENST00000348925.2:c.438+305_438+306dup ENSP00000314649.3:n.438+305_438+306dup
ENST00000357578.7:c.438+305_438+306dup ENSP00000350191.3:n.438+305_438+306dup
ENST00000491546.5:c.355-352_355-351dup ENSP00000417687.1:n.355-352_355-351dup
NM_001080.3:c.438+305_438+306dup MANE Select NP_001071.1:n.438+305_438+306dup
NM_170740.1:c.438+305_438+306dup NP_733936.1:n.438+305_438+306dup
NM_001368954.1:c.438+305_438+306dup NP_001355883.1:n.438+305_438+306dup