Canonical Allele Identifier: CA221182
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41424504G>A
GRCh37 chr19:g.41930409G>A
Revel Score:
ENST00000540732 0.911
ENST00000269980 (MANE Select) 0.911
ENST00000457836 0.911
ENST00000544905 0.911
gnomAD v2:
19:41930409 G / A
gnomAD v3:
19:41424504 G / A
gnomAD v4:
chr19-41424504-G-A
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424504G>A , CM000681.2:g.41424504G>A GRCh38
NC_000019.9:g.41930409G>A , CM000681.1:g.41930409G>A GRCh37
NC_000019.8:g.46622249G>A NCBI36
NG_013004.1:g.31716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1234G>A MANE Select ENSP00000269980.2:p.Val412Met
ENST00000269980.6:c.1234G>A ENSP00000269980.2:p.Val412Met
ENST00000457836.6:c.1243G>A ENSP00000416000.2:p.Val415Met
ENST00000540732.3:c.1336G>A ENSP00000443246.1:p.Val446Met
ENST00000544905.1:c.64G>A
ENST00000595085.5:c.922+1807G>A ENSP00000471150.2:n.922+1807G>A
NM_000709.3:c.1234G>A NP_000700.1:p.Val412Met
NM_001164783.1:c.1231G>A NP_001158255.1:p.Val411Met
NM_000709.4:c.1234G>A MANE Select NP_000700.1:p.Val412Met
NM_001164783.2:c.1231G>A NP_001158255.1:p.Val411Met
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