Canonical Allele Identifier: CA507690396

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928110A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422205A>C , CM000681.2:g.41422205A>C	GRCh38
NC_000019.9:g.41928110A>C , CM000681.1:g.41928110A>C	GRCh37
NC_000019.8:g.46619950A>C	NCBI36
NG_013004.1:g.29417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.688A>C MANE Select	ENSP00000269980.2:p.Arg230=
ENST00000269980.6:c.688A>C	ENSP00000269980.2:p.Arg230=
ENST00000457836.6:c.622A>C	ENSP00000416000.2:p.Arg208=
ENST00000535632.5:n.317A>C
ENST00000538423.5:n.814A>C
ENST00000540732.3:c.790A>C	ENSP00000443246.1:p.Arg264=
ENST00000541315.1:c.588A>C
ENST00000542943.5:c.601A>C	ENSP00000440345.1:p.Arg201=
ENST00000545787.1:n.316A>C
ENST00000595085.5:c.688A>C	ENSP00000471150.2:p.Arg230=
NM_000709.3:c.688A>C	NP_000700.1:p.Arg230=
NM_001164783.1:c.688A>C	NP_001158255.1:p.Arg230=
NM_000709.4:c.688A>C MANE Select	NP_000700.1:p.Arg230=
NM_001164783.2:c.688A>C	NP_001158255.1:p.Arg230=