Canonical Allele Identifier: CA507690711

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928580T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422675T>A , CM000681.2:g.41422675T>A	GRCh38
NC_000019.9:g.41928580T>A , CM000681.1:g.41928580T>A	GRCh37
NC_000019.8:g.46620420T>A	NCBI36
NG_013004.1:g.29887T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.900T>A MANE Select	ENSP00000269980.2:p.Gly300=
ENST00000269980.6:c.900T>A	ENSP00000269980.2:p.Gly300=
ENST00000457836.6:c.834T>A	ENSP00000416000.2:p.Gly278=
ENST00000535632.5:n.529T>A
ENST00000540732.3:c.1002T>A	ENSP00000443246.1:p.Gly334=
ENST00000542943.5:c.813T>A	ENSP00000440345.1:p.Gly271=
ENST00000545787.1:n.528T>A
ENST00000595085.5:c.900T>A	ENSP00000471150.2:p.Gly300=
NM_000709.3:c.900T>A	NP_000700.1:p.Gly300=
NM_001164783.1:c.897T>A	NP_001158255.1:p.Gly299=
NM_000709.4:c.900T>A MANE Select	NP_000700.1:p.Gly300=
NM_001164783.2:c.897T>A	NP_001158255.1:p.Gly299=