Canonical Allele Identifier: CA9461335

Gene: BCKDHA

Linked Data

• dbSNP Id: rs764053883
• ExAC: 19:41928810 C / A
• gnomAD v2: 19-41928810-C-A
• gnomAD v3: 19-41422905-C-A
• gnomAD v4: 19-41422905-C-A
• MyVariant Identifiers: chr19:g.41928810C>A (hg19) ; chr19:g.41422905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422905C>A , CM000681.2:g.41422905C>A	GRCh38
NC_000019.9:g.41928810C>A , CM000681.1:g.41928810C>A	GRCh37
NC_000019.8:g.46620650C>A	NCBI36
NG_013004.1:g.30117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-93C>A MANE Select	ENSP00000269980.2:n.996-93C>A
ENST00000269980.6:c.996-93C>A	ENSP00000269980.2:n.996-93C>A
ENST00000457836.6:c.930-18C>A	ENSP00000416000.2:n.930-18C>A
ENST00000540732.3:c.1098-93C>A	ENSP00000443246.1:n.1098-93C>A
ENST00000542943.5:c.909-93C>A	ENSP00000440345.1:n.909-93C>A
ENST00000595085.5:c.922+208C>A	ENSP00000471150.2:n.922+208C>A
NM_000709.3:c.996-93C>A	NP_000700.1:n.996-93C>A
NM_001164783.1:c.993-93C>A	NP_001158255.1:n.993-93C>A
NM_000709.4:c.996-93C>A MANE Select	NP_000700.1:n.996-93C>A
NM_001164783.2:c.993-93C>A	NP_001158255.1:n.993-93C>A