Canonical Allele Identifier: CA406006082

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916909C>G (hg19) ; chr19:g.41411004C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411004C>G , CM000681.2:g.41411004C>G	GRCh38
NC_000019.9:g.41916909C>G , CM000681.1:g.41916909C>G	GRCh37
NC_000019.8:g.46608749C>G	NCBI36
NG_013004.1:g.18216C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.370C>G MANE Select	ENSP00000269980.2:p.Arg124Gly
ENST00000269980.6:c.370C>G	ENSP00000269980.2:p.Arg124Gly
ENST00000457836.6:c.304C>G	ENSP00000416000.2:p.Arg102Gly
ENST00000538423.5:n.496C>G
ENST00000540732.3:c.472C>G	ENSP00000443246.1:p.Arg158Gly
ENST00000541315.1:c.177C>G
ENST00000542943.5:c.288+188C>G	ENSP00000440345.1:n.288+188C>G
ENST00000595085.5:c.370C>G	ENSP00000471150.2:p.Arg124Gly
NM_000709.3:c.370C>G	NP_000700.1:p.Arg124Gly
NM_001164783.1:c.370C>G	NP_001158255.1:p.Arg124Gly
NM_000709.4:c.370C>G MANE Select	NP_000700.1:p.Arg124Gly
NM_001164783.2:c.370C>G	NP_001158255.1:p.Arg124Gly