Canonical Allele Identifier: CA9461247

Gene: BCKDHA

Linked Data

• dbSNP Id: rs764812287
• ExAC: 19:41928146 A / G
• gnomAD v2: 19-41928146-A-G
• MyVariant Identifiers: chr19:g.41928146A>G (hg19) ; chr19:g.41422241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422241A>G , CM000681.2:g.41422241A>G	GRCh38
NC_000019.9:g.41928146A>G , CM000681.1:g.41928146A>G	GRCh37
NC_000019.8:g.46619986A>G	NCBI36
NG_013004.1:g.29453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.724A>G MANE Select	ENSP00000269980.2:p.Ser242Gly
ENST00000269980.6:c.724A>G	ENSP00000269980.2:p.Ser242Gly
ENST00000457836.6:c.658A>G	ENSP00000416000.2:p.Ser220Gly
ENST00000535632.5:n.353A>G
ENST00000540732.3:c.826A>G	ENSP00000443246.1:p.Ser276Gly
ENST00000541315.1:c.624A>G
ENST00000542943.5:c.637A>G	ENSP00000440345.1:p.Ser213Gly
ENST00000545787.1:n.352A>G
ENST00000595085.5:c.724A>G	ENSP00000471150.2:p.Ser242Gly
NM_000709.3:c.724A>G	NP_000700.1:p.Ser242Gly
NM_001164783.1:c.724A>G	NP_001158255.1:p.Ser242Gly
NM_000709.4:c.724A>G MANE Select	NP_000700.1:p.Ser242Gly
NM_001164783.2:c.724A>G	NP_001158255.1:p.Ser242Gly