Canonical Allele Identifier: CA406013548

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928674A>C (hg19) ; chr19:g.41422769A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422769A>C , CM000681.2:g.41422769A>C	GRCh38
NC_000019.9:g.41928674A>C , CM000681.1:g.41928674A>C	GRCh37
NC_000019.8:g.46620514A>C	NCBI36
NG_013004.1:g.29981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.994A>C MANE Select	ENSP00000269980.2:p.Arg332=
ENST00000269980.6:c.994A>C	ENSP00000269980.2:p.Arg332=
ENST00000457836.6:c.928A>C	ENSP00000416000.2:p.Ser310Arg
ENST00000540732.3:c.1096A>C	ENSP00000443246.1:p.Arg366=
ENST00000542943.5:c.907A>C	ENSP00000440345.1:p.Arg303=
ENST00000595085.5:c.922+72A>C	ENSP00000471150.2:n.922+72A>C
NM_000709.3:c.994A>C	NP_000700.1:p.Arg332=
NM_001164783.1:c.991A>C	NP_001158255.1:p.Arg331=
NM_000709.4:c.994A>C MANE Select	NP_000700.1:p.Arg332=
NM_001164783.2:c.991A>C	NP_001158255.1:p.Arg331=