Canonical Allele Identifier: CA507690741

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928625G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422720G>C , CM000681.2:g.41422720G>C	GRCh38
NC_000019.9:g.41928625G>C , CM000681.1:g.41928625G>C	GRCh37
NC_000019.8:g.46620465G>C	NCBI36
NG_013004.1:g.29932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.945G>C MANE Select	ENSP00000269980.2:p.Arg315=
ENST00000269980.6:c.945G>C	ENSP00000269980.2:p.Arg315=
ENST00000457836.6:c.879G>C	ENSP00000416000.2:p.Arg293=
ENST00000535632.5:n.574G>C
ENST00000540732.3:c.1047G>C	ENSP00000443246.1:p.Arg349=
ENST00000542943.5:c.858G>C	ENSP00000440345.1:p.Arg286=
ENST00000545787.1:n.573G>C
ENST00000595085.5:c.922+23G>C	ENSP00000471150.2:n.922+23G>C
NM_000709.3:c.945G>C	NP_000700.1:p.Arg315=
NM_001164783.1:c.942G>C	NP_001158255.1:p.Arg314=
NM_000709.4:c.945G>C MANE Select	NP_000700.1:p.Arg315=
NM_001164783.2:c.942G>C	NP_001158255.1:p.Arg314=