Canonical Allele Identifier: CA406013430

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928615A>G (hg19) ; chr19:g.41422710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422710A>G , CM000681.2:g.41422710A>G	GRCh38
NC_000019.9:g.41928615A>G , CM000681.1:g.41928615A>G	GRCh37
NC_000019.8:g.46620455A>G	NCBI36
NG_013004.1:g.29922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.935A>G MANE Select	ENSP00000269980.2:p.Glu312Gly
ENST00000269980.6:c.935A>G	ENSP00000269980.2:p.Glu312Gly
ENST00000457836.6:c.869A>G	ENSP00000416000.2:p.Glu290Gly
ENST00000535632.5:n.564A>G
ENST00000540732.3:c.1037A>G	ENSP00000443246.1:p.Glu346Gly
ENST00000542943.5:c.848A>G	ENSP00000440345.1:p.Glu283Gly
ENST00000545787.1:n.563A>G
ENST00000595085.5:c.922+13A>G	ENSP00000471150.2:n.922+13A>G
NM_000709.3:c.935A>G	NP_000700.1:p.Glu312Gly
NM_001164783.1:c.932A>G	NP_001158255.1:p.Glu311Gly
NM_000709.4:c.935A>G MANE Select	NP_000700.1:p.Glu312Gly
NM_001164783.2:c.932A>G	NP_001158255.1:p.Glu311Gly