Canonical Allele Identifier: CA507690625

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928217G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422312G>A , CM000681.2:g.41422312G>A	GRCh38
NC_000019.9:g.41928217G>A , CM000681.1:g.41928217G>A	GRCh37
NC_000019.8:g.46620057G>A	NCBI36
NG_013004.1:g.29524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.795G>A MANE Select	ENSP00000269980.2:p.Arg265=
ENST00000269980.6:c.795G>A	ENSP00000269980.2:p.Arg265=
ENST00000457836.6:c.729G>A	ENSP00000416000.2:p.Arg243=
ENST00000535632.5:n.424G>A
ENST00000540732.3:c.897G>A	ENSP00000443246.1:p.Arg299=
ENST00000542943.5:c.708G>A	ENSP00000440345.1:p.Arg236=
ENST00000545787.1:n.423G>A
ENST00000595085.5:c.795G>A	ENSP00000471150.2:p.Arg265=
NM_000709.3:c.795G>A	NP_000700.1:p.Arg265=
NM_001164783.1:c.795G>A	NP_001158255.1:p.Arg265=
NM_000709.4:c.795G>A MANE Select	NP_000700.1:p.Arg265=
NM_001164783.2:c.795G>A	NP_001158255.1:p.Arg265=