Canonical Allele Identifier: CA406013070

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928264G>A (hg19) ; chr19:g.41422359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422359G>A , CM000681.2:g.41422359G>A	GRCh38
NC_000019.9:g.41928264G>A , CM000681.1:g.41928264G>A	GRCh37
NC_000019.8:g.46620104G>A	NCBI36
NG_013004.1:g.29571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.842G>A MANE Select	ENSP00000269980.2:p.Gly281Asp
ENST00000269980.6:c.842G>A	ENSP00000269980.2:p.Gly281Asp
ENST00000457836.6:c.776G>A	ENSP00000416000.2:p.Gly259Asp
ENST00000535632.5:n.471G>A
ENST00000540732.3:c.944G>A	ENSP00000443246.1:p.Gly315Asp
ENST00000542943.5:c.755G>A	ENSP00000440345.1:p.Gly252Asp
ENST00000545787.1:n.470G>A
ENST00000595085.5:c.842G>A	ENSP00000471150.2:p.Gly281Asp
NM_000709.3:c.842G>A	NP_000700.1:p.Gly281Asp
NM_001164783.1:c.842G>A	NP_001158255.1:p.Gly281Asp
NM_000709.4:c.842G>A MANE Select	NP_000700.1:p.Gly281Asp
NM_001164783.2:c.842G>A	NP_001158255.1:p.Gly281Asp