Canonical Allele Identifier: CA406008204

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1949890
• ClinVar RCV Id: RCV002659574
• dbSNP Id: rs2039284812
• gnomAD v3: 19-41414129-C-A
• gnomAD v4: 19-41414129-C-A
• MyVariant Identifiers: chr19:g.41920034C>A (hg19) ; chr19:g.41414129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414129C>A , CM000681.2:g.41414129C>A	GRCh38
NC_000019.9:g.41920034C>A , CM000681.1:g.41920034C>A	GRCh37
NC_000019.8:g.46611874C>A	NCBI36
NG_013004.1:g.21341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.456C>A MANE Select	ENSP00000269980.2:p.Asp152Glu
ENST00000269980.6:c.456C>A	ENSP00000269980.2:p.Asp152Glu
ENST00000457836.6:c.390C>A	ENSP00000416000.2:p.Asp130Glu
ENST00000538423.5:n.582C>A
ENST00000540732.3:c.558C>A	ENSP00000443246.1:p.Asp186Glu
ENST00000541315.1:c.263C>A
ENST00000542943.5:c.369C>A	ENSP00000440345.1:p.Asp123Glu
ENST00000595085.5:c.456C>A	ENSP00000471150.2:p.Asp152Glu
NM_000709.3:c.456C>A	NP_000700.1:p.Asp152Glu
NM_001164783.1:c.456C>A	NP_001158255.1:p.Asp152Glu
NM_000709.4:c.456C>A MANE Select	NP_000700.1:p.Asp152Glu
NM_001164783.2:c.456C>A	NP_001158255.1:p.Asp152Glu