Canonical Allele Identifier: CA115510

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2378
• ClinVar RCV Id: RCV001378888
• dbSNP Id: rs137852872
• MyVariant Identifiers: chr19:g.41930401T>G (hg19) ; chr19:g.41424496T>G (hg38)
• PubMed: PMID:7883996 ; PMID:9582350

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424496T>G , CM000681.2:g.41424496T>G	GRCh38
NC_000019.9:g.41930401T>G , CM000681.1:g.41930401T>G	GRCh37
NC_000019.8:g.46622241T>G	NCBI36
NG_013004.1:g.31708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1226T>G MANE Select	ENSP00000269980.2:p.Phe409Cys
ENST00000269980.6:c.1226T>G	ENSP00000269980.2:p.Phe409Cys
ENST00000457836.6:c.1235T>G	ENSP00000416000.2:p.Phe412Cys
ENST00000540732.3:c.1328T>G	ENSP00000443246.1:p.Phe443Cys
ENST00000544905.1:c.62-6T>G
ENST00000595085.5:c.922+1799T>G	ENSP00000471150.2:n.922+1799T>G
NM_000709.3:c.1226T>G	NP_000700.1:p.Phe409Cys
NM_001164783.1:c.1223T>G	NP_001158255.1:p.Phe408Cys
NM_000709.4:c.1226T>G MANE Select	NP_000700.1:p.Phe409Cys
NM_001164783.2:c.1223T>G	NP_001158255.1:p.Phe408Cys