Canonical Allele Identifier: CA9461853
Gene: BCKDHA HGNC NCBI
COSMIC:
COSN8866999 (not active)
MyVariant.info:
GRCh38 chr19:g.41431190G>A
GRCh37 chr19:g.41937095G>A
Revel Score:
ENST00000378196 0.011
gnomAD v2:
19:41937095 G / A
gnomAD v3:
19:41431190 G / A
gnomAD v4:
chr19-41431190-G-A
Joint Max Group AF 0.54989275 (EAS)
Genomes Max Group AF 0.54297226 (EAS)
Exomes Max Group AF 0.54786502 (EAS)
dbSNP:
17318596
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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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