Canonical Allele Identifier: CA9461267
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41422353A>G
GRCh37 chr19:g.41928258A>G
Revel Score:
ENST00000540732 0.950
ENST00000269980 (MANE Select) 0.950
ENST00000542943 0.950
ENST00000457836 0.950
ENST00000378196 0.950
gnomAD v2:
19:41928258 A / G
gnomAD v3:
19:41422353 A / G
gnomAD v4:
chr19-41422353-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000224751
RCV002282065
ClinVar Variation:
235750
dbSNP:
367823977
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422353A>G , CM000681.2:g.41422353A>G GRCh38
NC_000019.9:g.41928258A>G , CM000681.1:g.41928258A>G GRCh37
NC_000019.8:g.46620098A>G NCBI36
NG_013004.1:g.29565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.836A>G MANE Select ENSP00000269980.2:p.Tyr279Cys
ENST00000269980.6:c.836A>G ENSP00000269980.2:p.Tyr279Cys
ENST00000457836.6:c.770A>G ENSP00000416000.2:p.Tyr257Cys
ENST00000535632.5:n.465A>G
ENST00000540732.3:c.938A>G ENSP00000443246.1:p.Tyr313Cys
ENST00000542943.5:c.749A>G ENSP00000440345.1:p.Tyr250Cys
ENST00000545787.1:n.464A>G
ENST00000595085.5:c.836A>G ENSP00000471150.2:p.Tyr279Cys
NM_000709.3:c.836A>G NP_000700.1:p.Tyr279Cys
NM_001164783.1:c.836A>G NP_001158255.1:p.Tyr279Cys
NM_000709.4:c.836A>G MANE Select NP_000700.1:p.Tyr279Cys
NM_001164783.2:c.836A>G NP_001158255.1:p.Tyr279Cys
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