Canonical Allele Identifier: CA507560719

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930462C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424557C>A , CM000681.2:g.41424557C>A	GRCh38
NC_000019.9:g.41930462C>A , CM000681.1:g.41930462C>A	GRCh37
NC_000019.8:g.46622302C>A	NCBI36
NG_013004.1:g.31769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1287C>A MANE Select	ENSP00000269980.2:p.Arg429=
ENST00000269980.6:c.1287C>A	ENSP00000269980.2:p.Arg429=
ENST00000457836.6:c.1296C>A	ENSP00000416000.2:p.Arg432=
ENST00000540732.3:c.1389C>A	ENSP00000443246.1:p.Arg463=
ENST00000544905.1:c.117C>A
ENST00000595085.5:c.922+1860C>A	ENSP00000471150.2:n.922+1860C>A
NM_000709.3:c.1287C>A	NP_000700.1:p.Arg429=
NM_001164783.1:c.1284C>A	NP_001158255.1:p.Arg428=
NM_000709.4:c.1287C>A MANE Select	NP_000700.1:p.Arg429=
NM_001164783.2:c.1284C>A	NP_001158255.1:p.Arg428=