Canonical Allele Identifier: CA115508

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2377
• ClinVar RCV Id: RCV000179775 ; RCV000790729 ; RCV001175041
• dbSNP Id: rs137852871
• ExAC: 19:41928548 G / A
• gnomAD v2: 19-41928548-G-A
• gnomAD v3: 19-41422643-G-A
• gnomAD v4: 19-41422643-G-A
• MyVariant Identifiers: chr19:g.41928548G>A (hg19) ; chr19:g.41422643G>A (hg38)
• PubMed: PMID:7883996 ; PMID:9582350 ; PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422643G>A , CM000681.2:g.41422643G>A	GRCh38
NC_000019.9:g.41928548G>A , CM000681.1:g.41928548G>A	GRCh37
NC_000019.8:g.46620388G>A	NCBI36
NG_013004.1:g.29855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.868G>A MANE Select	ENSP00000269980.2:p.Gly290Arg
ENST00000269980.6:c.868G>A	ENSP00000269980.2:p.Gly290Arg
ENST00000457836.6:c.802G>A	ENSP00000416000.2:p.Gly268Arg
ENST00000535632.5:n.497G>A
ENST00000540732.3:c.970G>A	ENSP00000443246.1:p.Gly324Arg
ENST00000542943.5:c.781G>A	ENSP00000440345.1:p.Gly261Arg
ENST00000545787.1:n.496G>A
ENST00000595085.5:c.868G>A	ENSP00000471150.2:p.Gly290Arg
NM_000709.3:c.868G>A	NP_000700.1:p.Gly290Arg
NM_001164783.1:c.865G>A	NP_001158255.1:p.Gly289Arg
NM_000709.4:c.868G>A MANE Select	NP_000700.1:p.Gly290Arg
NM_001164783.2:c.865G>A	NP_001158255.1:p.Gly289Arg