Canonical Allele Identifier: CA448782578
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24503589C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503361C>A , CM000668.2:g.24503361C>A GRCh38
NC_000006.11:g.24503589C>A , CM000668.1:g.24503589C>A GRCh37
NC_000006.10:g.24611568C>A NCBI36
NG_008161.1:g.13393C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.537C>A MANE Select ENSP00000350191.3:p.Ile179=
ENST00000672352.1:c.300C>A ENSP00000500876.1:p.Ile100=
ENST00000672557.1:c.455C>A
ENST00000672652.1:c.458C>A
ENST00000675422.1:n.1297C>A
ENST00000348925.2:c.537C>A ENSP00000314649.3:p.Ile179=
ENST00000357578.7:c.537C>A ENSP00000350191.3:p.Ile179=
ENST00000491546.5:c.453C>A ENSP00000417687.1:p.Ile151=
NM_001080.3:c.537C>A MANE Select NP_001071.1:p.Ile179=
NM_170740.1:c.537C>A NP_733936.1:p.Ile179=
NM_001368954.1:c.537C>A NP_001355883.1:p.Ile179=
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