Canonical Allele Identifier: CA2677527916
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24503458-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503458C>T , CM000668.2:g.24503458C>T GRCh38
NC_000006.11:g.24503686C>T , CM000668.1:g.24503686C>T GRCh37
NC_000006.10:g.24611665C>T NCBI36
NG_008161.1:g.13490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.609+25C>T MANE Select ENSP00000350191.3:n.609+25C>T
ENST00000672352.1:c.372+25C>T ENSP00000500876.1:n.372+25C>T
ENST00000672557.1:c.527+25C>T
ENST00000672652.1:c.530+25C>T
ENST00000675422.1:n.1369+25C>T
ENST00000348925.2:c.609+25C>T ENSP00000314649.3:n.609+25C>T
ENST00000357578.7:c.609+25C>T ENSP00000350191.3:n.609+25C>T
ENST00000491546.5:c.525+25C>T ENSP00000417687.1:n.525+25C>T
NM_001080.3:c.609+25C>T MANE Select NP_001071.1:n.609+25C>T
NM_170740.1:c.609+25C>T NP_733936.1:n.609+25C>T
NM_001368954.1:c.609+25C>T NP_001355883.1:n.609+25C>T