Canonical Allele Identifier: CA406013367

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2044440
• ClinVar RCV Id: RCV002903690
• MyVariant Identifiers: chr19:g.41928585A>G (hg19) ; chr19:g.41422680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422680A>G , CM000681.2:g.41422680A>G	GRCh38
NC_000019.9:g.41928585A>G , CM000681.1:g.41928585A>G	GRCh37
NC_000019.8:g.46620425A>G	NCBI36
NG_013004.1:g.29892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.905A>G MANE Select	ENSP00000269980.2:p.Asp302Gly
ENST00000269980.6:c.905A>G	ENSP00000269980.2:p.Asp302Gly
ENST00000457836.6:c.839A>G	ENSP00000416000.2:p.Asp280Gly
ENST00000535632.5:n.534A>G
ENST00000540732.3:c.1007A>G	ENSP00000443246.1:p.Asp336Gly
ENST00000542943.5:c.818A>G	ENSP00000440345.1:p.Asp273Gly
ENST00000545787.1:n.533A>G
ENST00000595085.5:c.905A>G	ENSP00000471150.2:p.Asp302Gly
NM_000709.3:c.905A>G	NP_000700.1:p.Asp302Gly
NM_001164783.1:c.902A>G	NP_001158255.1:p.Asp301Gly
NM_000709.4:c.905A>G MANE Select	NP_000700.1:p.Asp302Gly
NM_001164783.2:c.902A>G	NP_001158255.1:p.Asp301Gly