Canonical Allele Identifier: CA406013442

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928623C>G (hg19) ; chr19:g.41422718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422718C>G , CM000681.2:g.41422718C>G	GRCh38
NC_000019.9:g.41928623C>G , CM000681.1:g.41928623C>G	GRCh37
NC_000019.8:g.46620463C>G	NCBI36
NG_013004.1:g.29930C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.943C>G MANE Select	ENSP00000269980.2:p.Arg315Gly
ENST00000269980.6:c.943C>G	ENSP00000269980.2:p.Arg315Gly
ENST00000457836.6:c.877C>G	ENSP00000416000.2:p.Arg293Gly
ENST00000535632.5:n.572C>G
ENST00000540732.3:c.1045C>G	ENSP00000443246.1:p.Arg349Gly
ENST00000542943.5:c.856C>G	ENSP00000440345.1:p.Arg286Gly
ENST00000545787.1:n.571C>G
ENST00000595085.5:c.922+21C>G	ENSP00000471150.2:n.922+21C>G
NM_000709.3:c.943C>G	NP_000700.1:p.Arg315Gly
NM_001164783.1:c.940C>G	NP_001158255.1:p.Arg314Gly
NM_000709.4:c.943C>G MANE Select	NP_000700.1:p.Arg315Gly
NM_001164783.2:c.940C>G	NP_001158255.1:p.Arg314Gly