Canonical Allele Identifier: CA406005061

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916711A>G (hg19) ; chr19:g.41410806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410806A>G , CM000681.2:g.41410806A>G	GRCh38
NC_000019.9:g.41916711A>G , CM000681.1:g.41916711A>G	GRCh37
NC_000019.8:g.46608551A>G	NCBI36
NG_013004.1:g.18018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.278A>G MANE Select	ENSP00000269980.2:p.Glu93Gly
ENST00000269980.6:c.278A>G	ENSP00000269980.2:p.Glu93Gly
ENST00000457836.6:c.212A>G	ENSP00000416000.2:p.Glu71Gly
ENST00000538423.5:n.298A>G
ENST00000540732.3:c.380A>G	ENSP00000443246.1:p.Glu127Gly
ENST00000541315.1:c.85A>G
ENST00000542943.5:c.278A>G	ENSP00000440345.1:p.Glu93Gly
ENST00000595085.5:c.278A>G	ENSP00000471150.2:p.Glu93Gly
ENST00000604424.1:n.520A>G
NM_000709.3:c.278A>G	NP_000700.1:p.Glu93Gly
NM_001164783.1:c.278A>G	NP_001158255.1:p.Glu93Gly
NM_000709.4:c.278A>G MANE Select	NP_000700.1:p.Glu93Gly
NM_001164783.2:c.278A>G	NP_001158255.1:p.Glu93Gly