Canonical Allele Identifier: CA507690405

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928112G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422207G>A , CM000681.2:g.41422207G>A	GRCh38
NC_000019.9:g.41928112G>A , CM000681.1:g.41928112G>A	GRCh37
NC_000019.8:g.46619952G>A	NCBI36
NG_013004.1:g.29419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.690G>A MANE Select	ENSP00000269980.2:p.Arg230=
ENST00000269980.6:c.690G>A	ENSP00000269980.2:p.Arg230=
ENST00000457836.6:c.624G>A	ENSP00000416000.2:p.Arg208=
ENST00000535632.5:n.319G>A
ENST00000538423.5:n.816G>A
ENST00000540732.3:c.792G>A	ENSP00000443246.1:p.Arg264=
ENST00000541315.1:c.590G>A
ENST00000542943.5:c.603G>A	ENSP00000440345.1:p.Arg201=
ENST00000545787.1:n.318G>A
ENST00000595085.5:c.690G>A	ENSP00000471150.2:p.Arg230=
NM_000709.3:c.690G>A	NP_000700.1:p.Arg230=
NM_001164783.1:c.690G>A	NP_001158255.1:p.Arg230=
NM_000709.4:c.690G>A MANE Select	NP_000700.1:p.Arg230=
NM_001164783.2:c.690G>A	NP_001158255.1:p.Arg230=