Canonical Allele Identifier: CA406013049

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928254C>A (hg19) ; chr19:g.41422349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422349C>A , CM000681.2:g.41422349C>A	GRCh38
NC_000019.9:g.41928254C>A , CM000681.1:g.41928254C>A	GRCh37
NC_000019.8:g.46620094C>A	NCBI36
NG_013004.1:g.29561C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.832C>A MANE Select	ENSP00000269980.2:p.Gln278Lys
ENST00000269980.6:c.832C>A	ENSP00000269980.2:p.Gln278Lys
ENST00000457836.6:c.766C>A	ENSP00000416000.2:p.Gln256Lys
ENST00000535632.5:n.461C>A
ENST00000540732.3:c.934C>A	ENSP00000443246.1:p.Gln312Lys
ENST00000542943.5:c.745C>A	ENSP00000440345.1:p.Gln249Lys
ENST00000545787.1:n.460C>A
ENST00000595085.5:c.832C>A	ENSP00000471150.2:p.Gln278Lys
NM_000709.3:c.832C>A	NP_000700.1:p.Gln278Lys
NM_001164783.1:c.832C>A	NP_001158255.1:p.Gln278Lys
NM_000709.4:c.832C>A MANE Select	NP_000700.1:p.Gln278Lys
NM_001164783.2:c.832C>A	NP_001158255.1:p.Gln278Lys