Canonical Allele Identifier: CA9461321

Gene: BCKDHA

Linked Data

• dbSNP Id: rs756872828
• ExAC: 19:41928700 A / AC
• gnomAD v2: 19-41928700-A-AC
• gnomAD v3: 19-41422795-A-AC
• gnomAD v4: 19-41422795-A-AC
• MyVariant Identifiers: chr19:g.41928700_41928701insC (hg19) ; chr19:g.41422795_41422796insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422800dup , CM000681.2:g.41422800dup	GRCh38
NC_000019.9:g.41928705dup , CM000681.1:g.41928705dup	GRCh37
NC_000019.8:g.46620545dup	NCBI36
NG_013004.1:g.30012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+30dup MANE Select	ENSP00000269980.2:n.995+30dup
ENST00000269980.6:c.995+30dup	ENSP00000269980.2:n.995+30dup
ENST00000457836.6:c.929+30dup	ENSP00000416000.2:n.929+30dup
ENST00000540732.3:c.1097+30dup	ENSP00000443246.1:n.1097+30dup
ENST00000542943.5:c.908+30dup	ENSP00000440345.1:n.908+30dup
ENST00000595085.5:c.922+103dup	ENSP00000471150.2:n.922+103dup
NM_000709.3:c.995+30dup	NP_000700.1:n.995+30dup
NM_001164783.1:c.992+30dup	NP_001158255.1:n.992+30dup
NM_000709.4:c.995+30dup MANE Select	NP_000700.1:n.995+30dup
NM_001164783.2:c.992+30dup	NP_001158255.1:n.992+30dup