Canonical Allele Identifier: CA9461853
Gene: BCKDHA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41431190G>A , CM000681.2:g.41431190G>A GRCh38
NC_000019.9:g.41937095G>A , CM000681.1:g.41937095G>A GRCh37
NC_000019.8:g.46628935G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000595085.5:c.1057G>A ENSP00000471150.2:p.Ala353Thr
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