Canonical Allele Identifier: CA9461307
Gene: BCKDHA HGNC NCBI
COSMIC:
COSM997030
MyVariant.info:
GRCh38 chr19:g.41422718C>T
GRCh37 chr19:g.41928623C>T
Revel Score:
ENST00000540732 0.844
ENST00000269980 (MANE Select) 0.844
ENST00000542943 0.844
ENST00000457836 0.844
gnomAD v2:
19:41928623 C / T
gnomAD v3:
19:41422718 C / T
gnomAD v4:
chr19-41422718-C-T
Joint Max Group AF 0.00011345 (NFE)
Genomes Max Group AF 0.00009046 (NFE)
Exomes Max Group AF 0.00011099 (NFE)
ClinVar RCV:
RCV000625823
RCV002271540
ClinVar Variation:
522678
dbSNP:
373336888
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422718C>T , CM000681.2:g.41422718C>T GRCh38
NC_000019.9:g.41928623C>T , CM000681.1:g.41928623C>T GRCh37
NC_000019.8:g.46620463C>T NCBI36
NG_013004.1:g.29930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.943C>T MANE Select ENSP00000269980.2:p.Arg315Trp
ENST00000269980.6:c.943C>T ENSP00000269980.2:p.Arg315Trp
ENST00000457836.6:c.877C>T ENSP00000416000.2:p.Arg293Trp
ENST00000535632.5:n.572C>T
ENST00000540732.3:c.1045C>T ENSP00000443246.1:p.Arg349Trp
ENST00000542943.5:c.856C>T ENSP00000440345.1:p.Arg286Trp
ENST00000545787.1:n.571C>T
ENST00000595085.5:c.922+21C>T ENSP00000471150.2:n.922+21C>T
NM_000709.3:c.943C>T NP_000700.1:p.Arg315Trp
NM_001164783.1:c.940C>T NP_001158255.1:p.Arg314Trp
NM_000709.4:c.943C>T MANE Select NP_000700.1:p.Arg315Trp
NM_001164783.2:c.940C>T NP_001158255.1:p.Arg314Trp
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