Canonical Allele Identifier: CA221177
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41423039G>A
GRCh37 chr19:g.41928944G>A
Revel Score:
ENST00000540732 0.964
ENST00000269980 (MANE Select) 0.964
ENST00000542943 0.964
ENST00000457836 0.964
gnomAD v3:
19:41423039 G / A
gnomAD v4:
chr19-41423039-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000180182
RCV000790816
ClinVar Variation:
93336
dbSNP:
398123486
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423039G>A , CM000681.2:g.41423039G>A GRCh38
NC_000019.9:g.41928944G>A , CM000681.1:g.41928944G>A GRCh37
NC_000019.8:g.46620784G>A NCBI36
NG_013004.1:g.30251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1037G>A MANE Select ENSP00000269980.2:p.Arg346His
ENST00000269980.6:c.1037G>A ENSP00000269980.2:p.Arg346His
ENST00000457836.6:c.1046G>A ENSP00000416000.2:p.Arg349His
ENST00000540732.3:c.1139G>A ENSP00000443246.1:p.Arg380His
ENST00000542943.5:c.950G>A ENSP00000440345.1:p.Arg317His
ENST00000595085.5:c.922+342G>A ENSP00000471150.2:n.922+342G>A
NM_000709.3:c.1037G>A NP_000700.1:p.Arg346His
NM_001164783.1:c.1034G>A NP_001158255.1:p.Arg345His
NM_000709.4:c.1037G>A MANE Select NP_000700.1:p.Arg346His
NM_001164783.2:c.1034G>A NP_001158255.1:p.Arg345His
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