Canonical Allele Identifier: CA406013429

Gene: BCKDHA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.935A>T MANE Select	ENSP00000269980.2:p.Glu312Val
ENST00000269980.6:c.935A>T	ENSP00000269980.2:p.Glu312Val
ENST00000457836.6:c.869A>T	ENSP00000416000.2:p.Glu290Val
ENST00000535632.5:n.564A>T
ENST00000540732.3:c.1037A>T	ENSP00000443246.1:p.Glu346Val
ENST00000542943.5:c.848A>T	ENSP00000440345.1:p.Glu283Val
ENST00000545787.1:n.563A>T
ENST00000595085.5:c.922+13A>T	ENSP00000471150.2:n.922+13A>T
NM_000709.3:c.935A>T	NP_000700.1:p.Glu312Val
NM_001164783.1:c.932A>T	NP_001158255.1:p.Glu311Val
NM_000709.4:c.935A>T MANE Select	NP_000700.1:p.Glu312Val
NM_001164783.2:c.932A>T	NP_001158255.1:p.Glu311Val