Canonical Allele Identifier: CA406013483

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928645A>G (hg19) ; chr19:g.41422740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422740A>G , CM000681.2:g.41422740A>G	GRCh38
NC_000019.9:g.41928645A>G , CM000681.1:g.41928645A>G	GRCh37
NC_000019.8:g.46620485A>G	NCBI36
NG_013004.1:g.29952A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.965A>G MANE Select	ENSP00000269980.2:p.Gln322Arg
ENST00000269980.6:c.965A>G	ENSP00000269980.2:p.Gln322Arg
ENST00000457836.6:c.899A>G	ENSP00000416000.2:p.Gln300Arg
ENST00000535632.5:n.594A>G
ENST00000540732.3:c.1067A>G	ENSP00000443246.1:p.Gln356Arg
ENST00000542943.5:c.878A>G	ENSP00000440345.1:p.Gln293Arg
ENST00000595085.5:c.922+43A>G	ENSP00000471150.2:n.922+43A>G
NM_000709.3:c.965A>G	NP_000700.1:p.Gln322Arg
NM_001164783.1:c.962A>G	NP_001158255.1:p.Gln321Arg
NM_000709.4:c.965A>G MANE Select	NP_000700.1:p.Gln322Arg
NM_001164783.2:c.962A>G	NP_001158255.1:p.Gln321Arg