Canonical Allele Identifier: CA406015169

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930349G>A (hg19) ; chr19:g.41424444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424444G>A , CM000681.2:g.41424444G>A	GRCh38
NC_000019.9:g.41930349G>A , CM000681.1:g.41930349G>A	GRCh37
NC_000019.8:g.46622189G>A	NCBI36
NG_013004.1:g.31656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1174G>A MANE Select	ENSP00000269980.2:p.Glu392Lys
ENST00000269980.6:c.1174G>A	ENSP00000269980.2:p.Glu392Lys
ENST00000457836.6:c.1183G>A	ENSP00000416000.2:p.Glu395Lys
ENST00000540732.3:c.1276G>A	ENSP00000443246.1:p.Glu426Lys
ENST00000544905.1:c.62-58G>A
ENST00000595085.5:c.922+1747G>A	ENSP00000471150.2:n.922+1747G>A
NM_000709.3:c.1174G>A	NP_000700.1:p.Glu392Lys
NM_001164783.1:c.1171G>A	NP_001158255.1:p.Glu391Lys
NM_000709.4:c.1174G>A MANE Select	NP_000700.1:p.Glu392Lys
NM_001164783.2:c.1171G>A	NP_001158255.1:p.Glu391Lys