Canonical Allele Identifier: CA406012849

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 982806
• ClinVar RCV Id: RCV001262490
• dbSNP Id: rs1468416468
• gnomAD v4: 19-41422257-A-G
• MyVariant Identifiers: chr19:g.41928162A>G (hg19) ; chr19:g.41422257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422257A>G , CM000681.2:g.41422257A>G	GRCh38
NC_000019.9:g.41928162A>G , CM000681.1:g.41928162A>G	GRCh37
NC_000019.8:g.46620002A>G	NCBI36
NG_013004.1:g.29469A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.740A>G MANE Select	ENSP00000269980.2:p.His247Arg
ENST00000269980.6:c.740A>G	ENSP00000269980.2:p.His247Arg
ENST00000457836.6:c.674A>G	ENSP00000416000.2:p.His225Arg
ENST00000535632.5:n.369A>G
ENST00000540732.3:c.842A>G	ENSP00000443246.1:p.His281Arg
ENST00000542943.5:c.653A>G	ENSP00000440345.1:p.His218Arg
ENST00000545787.1:n.368A>G
ENST00000595085.5:c.740A>G	ENSP00000471150.2:p.His247Arg
NM_000709.3:c.740A>G	NP_000700.1:p.His247Arg
NM_001164783.1:c.740A>G	NP_001158255.1:p.His247Arg
NM_000709.4:c.740A>G MANE Select	NP_000700.1:p.His247Arg
NM_001164783.2:c.740A>G	NP_001158255.1:p.His247Arg