Canonical Allele Identifier: CA406013425

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928614G>A (hg19) ; chr19:g.41422709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422709G>A , CM000681.2:g.41422709G>A	GRCh38
NC_000019.9:g.41928614G>A , CM000681.1:g.41928614G>A	GRCh37
NC_000019.8:g.46620454G>A	NCBI36
NG_013004.1:g.29921G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.934G>A MANE Select	ENSP00000269980.2:p.Glu312Lys
ENST00000269980.6:c.934G>A	ENSP00000269980.2:p.Glu312Lys
ENST00000457836.6:c.868G>A	ENSP00000416000.2:p.Glu290Lys
ENST00000535632.5:n.563G>A
ENST00000540732.3:c.1036G>A	ENSP00000443246.1:p.Glu346Lys
ENST00000542943.5:c.847G>A	ENSP00000440345.1:p.Glu283Lys
ENST00000545787.1:n.562G>A
ENST00000595085.5:c.922+12G>A	ENSP00000471150.2:n.922+12G>A
NM_000709.3:c.934G>A	NP_000700.1:p.Glu312Lys
NM_001164783.1:c.931G>A	NP_001158255.1:p.Glu311Lys
NM_000709.4:c.934G>A MANE Select	NP_000700.1:p.Glu312Lys
NM_001164783.2:c.931G>A	NP_001158255.1:p.Glu311Lys