Canonical Allele Identifier: CA2677527912
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24503451-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503451C>G , CM000668.2:g.24503451C>G GRCh38
NC_000006.11:g.24503679C>G , CM000668.1:g.24503679C>G GRCh37
NC_000006.10:g.24611658C>G NCBI36
NG_008161.1:g.13483C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.609+18C>G MANE Select ENSP00000350191.3:n.609+18C>G
ENST00000672352.1:c.372+18C>G ENSP00000500876.1:n.372+18C>G
ENST00000672557.1:c.527+18C>G
ENST00000672652.1:c.530+18C>G
ENST00000675422.1:n.1369+18C>G
ENST00000348925.2:c.609+18C>G ENSP00000314649.3:n.609+18C>G
ENST00000357578.7:c.609+18C>G ENSP00000350191.3:n.609+18C>G
ENST00000491546.5:c.525+18C>G ENSP00000417687.1:n.525+18C>G
NM_001080.3:c.609+18C>G MANE Select NP_001071.1:n.609+18C>G
NM_170740.1:c.609+18C>G NP_733936.1:n.609+18C>G
NM_001368954.1:c.609+18C>G NP_001355883.1:n.609+18C>G