Canonical Allele Identifier: CA221234

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93385
• ClinVar RCV Id: RCV000179779 ; RCV000790719 ; RCV001275918
• dbSNP Id: rs398123515
• gnomAD v2: 19-41928659-G-A
• gnomAD v3: 19-41422754-G-A
• gnomAD v4: 19-41422754-G-A
• MyVariant Identifiers: chr19:g.41928659G>A (hg19) ; chr19:g.41422754G>A (hg38)
• PubMed: PMID:16786533 ; PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422754G>A , CM000681.2:g.41422754G>A	GRCh38
NC_000019.9:g.41928659G>A , CM000681.1:g.41928659G>A	GRCh37
NC_000019.8:g.46620499G>A	NCBI36
NG_013004.1:g.29966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.979G>A MANE Select	ENSP00000269980.2:p.Glu327Lys
ENST00000269980.6:c.979G>A	ENSP00000269980.2:p.Glu327Lys
ENST00000457836.6:c.913G>A	ENSP00000416000.2:p.Glu305Lys
ENST00000535632.5:n.608G>A
ENST00000540732.3:c.1081G>A	ENSP00000443246.1:p.Glu361Lys
ENST00000542943.5:c.892G>A	ENSP00000440345.1:p.Glu298Lys
ENST00000595085.5:c.922+57G>A	ENSP00000471150.2:n.922+57G>A
NM_000709.3:c.979G>A	NP_000700.1:p.Glu327Lys
NM_001164783.1:c.976G>A	NP_001158255.1:p.Glu326Lys
NM_000709.4:c.979G>A MANE Select	NP_000700.1:p.Glu327Lys
NM_001164783.2:c.976G>A	NP_001158255.1:p.Glu326Lys