Canonical Allele Identifier: CA2677527932
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24503495-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503495T>G , CM000668.2:g.24503495T>G GRCh38
NC_000006.11:g.24503723T>G , CM000668.1:g.24503723T>G GRCh37
NC_000006.10:g.24611702T>G NCBI36
NG_008161.1:g.13527T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.609+62T>G MANE Select ENSP00000350191.3:n.609+62T>G
ENST00000672352.1:c.372+62T>G ENSP00000500876.1:n.372+62T>G
ENST00000672557.1:c.527+62T>G
ENST00000672652.1:c.530+62T>G
ENST00000675422.1:n.1369+62T>G
ENST00000348925.2:c.609+62T>G ENSP00000314649.3:n.609+62T>G
ENST00000357578.7:c.609+62T>G ENSP00000350191.3:n.609+62T>G
ENST00000491546.5:c.525+62T>G ENSP00000417687.1:n.525+62T>G
NM_001080.3:c.609+62T>G MANE Select NP_001071.1:n.609+62T>G
NM_170740.1:c.609+62T>G NP_733936.1:n.609+62T>G
NM_001368954.1:c.609+62T>G NP_001355883.1:n.609+62T>G