Canonical Allele Identifier: CA406024096
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41431062C>G
GRCh37 chr19:g.41936967C>G
Revel Score:
ENST00000378196 0.210
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41431062C>G , CM000681.2:g.41431062C>G GRCh38
NC_000019.9:g.41936967C>G , CM000681.1:g.41936967C>G GRCh37
NC_000019.8:g.46628807C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000595085.5:c.929C>G ENSP00000471150.2:p.Thr310Arg
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