Canonical Allele Identifier: CA9461012
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41410687G>C
GRCh37 chr19:g.41916592G>C
Revel Score:
ENST00000540732 0.487
ENST00000269980 (MANE Select) 0.487
ENST00000542943 0.487
ENST00000457836 0.487
ENST00000378196 0.487
gnomAD v2:
19:41916592 G / C
gnomAD v3:
19:41410687 G / C
gnomAD v4:
chr19-41410687-G-C
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV000363085
RCV001833460
ClinVar Variation:
329359
dbSNP:
775471043
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410687G>C , CM000681.2:g.41410687G>C GRCh38
NC_000019.9:g.41916592G>C , CM000681.1:g.41916592G>C GRCh37
NC_000019.8:g.46608432G>C NCBI36
NG_013004.1:g.17899G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.159G>C MANE Select ENSP00000269980.2:p.Gln53His
ENST00000269980.6:c.159G>C ENSP00000269980.2:p.Gln53His
ENST00000457836.6:c.93G>C ENSP00000416000.2:p.Gln31His
ENST00000538423.5:n.179G>C
ENST00000540732.3:c.261G>C ENSP00000443246.1:p.Gln87His
ENST00000542943.5:c.159G>C ENSP00000440345.1:p.Gln53His
ENST00000595085.5:c.159G>C ENSP00000471150.2:p.Gln53His
ENST00000604424.1:n.401G>C
NM_000709.3:c.159G>C NP_000700.1:p.Gln53His
NM_001164783.1:c.159G>C NP_001158255.1:p.Gln53His
NM_000709.4:c.159G>C MANE Select NP_000700.1:p.Gln53His
NM_001164783.2:c.159G>C NP_001158255.1:p.Gln53His
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