Canonical Allele Identifier: CA406013446

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1035138
• ClinVar RCV Id: RCV001337966 ; RCV001831043
• dbSNP Id: rs972403437
• gnomAD v2: 19-41928627-G-A
• gnomAD v3: 19-41422722-G-A
• gnomAD v4: 19-41422722-G-A
• MyVariant Identifiers: chr19:g.41928627G>A (hg19) ; chr19:g.41422722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422722G>A , CM000681.2:g.41422722G>A	GRCh38
NC_000019.9:g.41928627G>A , CM000681.1:g.41928627G>A	GRCh37
NC_000019.8:g.46620467G>A	NCBI36
NG_013004.1:g.29934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.947G>A MANE Select	ENSP00000269980.2:p.Arg316Gln
ENST00000269980.6:c.947G>A	ENSP00000269980.2:p.Arg316Gln
ENST00000457836.6:c.881G>A	ENSP00000416000.2:p.Arg294Gln
ENST00000535632.5:n.576G>A
ENST00000540732.3:c.1049G>A	ENSP00000443246.1:p.Arg350Gln
ENST00000542943.5:c.860G>A	ENSP00000440345.1:p.Arg287Gln
ENST00000545787.1:n.575G>A
ENST00000595085.5:c.922+25G>A	ENSP00000471150.2:n.922+25G>A
NM_000709.3:c.947G>A	NP_000700.1:p.Arg316Gln
NM_001164783.1:c.944G>A	NP_001158255.1:p.Arg315Gln
NM_000709.4:c.947G>A MANE Select	NP_000700.1:p.Arg316Gln
NM_001164783.2:c.944G>A	NP_001158255.1:p.Arg315Gln