Canonical Allele Identifier: CA406012710

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928096G>C (hg19) ; chr19:g.41422191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422191G>C , CM000681.2:g.41422191G>C	GRCh38
NC_000019.9:g.41928096G>C , CM000681.1:g.41928096G>C	GRCh37
NC_000019.8:g.46619936G>C	NCBI36
NG_013004.1:g.29403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.674G>C MANE Select	ENSP00000269980.2:p.Arg225Pro
ENST00000269980.6:c.674G>C	ENSP00000269980.2:p.Arg225Pro
ENST00000457836.6:c.608G>C	ENSP00000416000.2:p.Arg203Pro
ENST00000535632.5:n.303G>C
ENST00000538423.5:n.800G>C
ENST00000540732.3:c.776G>C	ENSP00000443246.1:p.Arg259Pro
ENST00000541315.1:c.574G>C
ENST00000542943.5:c.587G>C	ENSP00000440345.1:p.Arg196Pro
ENST00000545787.1:n.302G>C
ENST00000595085.5:c.674G>C	ENSP00000471150.2:p.Arg225Pro
NM_000709.3:c.674G>C	NP_000700.1:p.Arg225Pro
NM_001164783.1:c.674G>C	NP_001158255.1:p.Arg225Pro
NM_000709.4:c.674G>C MANE Select	NP_000700.1:p.Arg225Pro
NM_001164783.2:c.674G>C	NP_001158255.1:p.Arg225Pro