Canonical Allele Identifier: CA221217

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93373
• ClinVar RCV Id: RCV000079255
• dbSNP Id: rs398123506
• MyVariant Identifiers: chr19:g.41928239A>G (hg19) ; chr19:g.41422334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422334A>G , CM000681.2:g.41422334A>G	GRCh38
NC_000019.9:g.41928239A>G , CM000681.1:g.41928239A>G	GRCh37
NC_000019.8:g.46620079A>G	NCBI36
NG_013004.1:g.29546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.817A>G MANE Select	ENSP00000269980.2:p.Thr273Ala
ENST00000269980.6:c.817A>G	ENSP00000269980.2:p.Thr273Ala
ENST00000457836.6:c.751A>G	ENSP00000416000.2:p.Thr251Ala
ENST00000535632.5:n.446A>G
ENST00000540732.3:c.919A>G	ENSP00000443246.1:p.Thr307Ala
ENST00000542943.5:c.730A>G	ENSP00000440345.1:p.Thr244Ala
ENST00000545787.1:n.445A>G
ENST00000595085.5:c.817A>G	ENSP00000471150.2:p.Thr273Ala
NM_000709.3:c.817A>G	NP_000700.1:p.Thr273Ala
NM_001164783.1:c.817A>G	NP_001158255.1:p.Thr273Ala
NM_000709.4:c.817A>G MANE Select	NP_000700.1:p.Thr273Ala
NM_001164783.2:c.817A>G	NP_001158255.1:p.Thr273Ala