Canonical Allele Identifier: CA9461103

Gene: BCKDHA

Linked Data

• dbSNP Id: rs754135764
• ExAC: 19:41916938 C / CG
• gnomAD v2: 19-41916938-C-CG
• gnomAD v3: 19-41411033-C-CG
• gnomAD v4: 19-41411033-C-CG
• MyVariant Identifiers: chr19:g.41916938_41916939insG (hg19) ; chr19:g.41411033_41411034insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411039dup , CM000681.2:g.41411039dup	GRCh38
NC_000019.9:g.41916944dup , CM000681.1:g.41916944dup	GRCh37
NC_000019.8:g.46608784dup	NCBI36
NG_013004.1:g.18251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+30dup MANE Select	ENSP00000269980.2:n.375+30dup
ENST00000269980.6:c.375+30dup	ENSP00000269980.2:n.375+30dup
ENST00000457836.6:c.309+30dup	ENSP00000416000.2:n.309+30dup
ENST00000538423.5:n.501+30dup
ENST00000540732.3:c.477+30dup	ENSP00000443246.1:n.477+30dup
ENST00000541315.1:c.182+30dup
ENST00000542943.5:c.288+223dup	ENSP00000440345.1:n.288+223dup
ENST00000595085.5:c.375+30dup	ENSP00000471150.2:n.375+30dup
NM_000709.3:c.375+30dup	NP_000700.1:n.375+30dup
NM_001164783.1:c.375+30dup	NP_001158255.1:n.375+30dup
NM_000709.4:c.375+30dup MANE Select	NP_000700.1:n.375+30dup
NM_001164783.2:c.375+30dup	NP_001158255.1:n.375+30dup