Canonical Allele Identifier: CA507690351

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928095C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422190C>A , CM000681.2:g.41422190C>A	GRCh38
NC_000019.9:g.41928095C>A , CM000681.1:g.41928095C>A	GRCh37
NC_000019.8:g.46619935C>A	NCBI36
NG_013004.1:g.29402C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.673C>A MANE Select	ENSP00000269980.2:p.Arg225=
ENST00000269980.6:c.673C>A	ENSP00000269980.2:p.Arg225=
ENST00000457836.6:c.607C>A	ENSP00000416000.2:p.Arg203=
ENST00000535632.5:n.302C>A
ENST00000538423.5:n.799C>A
ENST00000540732.3:c.775C>A	ENSP00000443246.1:p.Arg259=
ENST00000541315.1:c.573C>A
ENST00000542943.5:c.586C>A	ENSP00000440345.1:p.Arg196=
ENST00000545787.1:n.301C>A
ENST00000595085.5:c.673C>A	ENSP00000471150.2:p.Arg225=
NM_000709.3:c.673C>A	NP_000700.1:p.Arg225=
NM_001164783.1:c.673C>A	NP_001158255.1:p.Arg225=
NM_000709.4:c.673C>A MANE Select	NP_000700.1:p.Arg225=
NM_001164783.2:c.673C>A	NP_001158255.1:p.Arg225=