Canonical Allele Identifier: CA221182

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93344
• ClinVar RCV Id: RCV000180522 ; RCV000790815 ; RCV000853374 ; RCV002514392
• dbSNP Id: rs398123490
• gnomAD v2: 19-41930409-G-A
• gnomAD v3: 19-41424504-G-A
• gnomAD v4: 19-41424504-G-A
• MyVariant Identifiers: chr19:g.41930409G>A (hg19) ; chr19:g.41424504G>A (hg38)
• PubMed: PMID:14517957 ; PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424504G>A , CM000681.2:g.41424504G>A	GRCh38
NC_000019.9:g.41930409G>A , CM000681.1:g.41930409G>A	GRCh37
NC_000019.8:g.46622249G>A	NCBI36
NG_013004.1:g.31716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1234G>A MANE Select	ENSP00000269980.2:p.Val412Met
ENST00000269980.6:c.1234G>A	ENSP00000269980.2:p.Val412Met
ENST00000457836.6:c.1243G>A	ENSP00000416000.2:p.Val415Met
ENST00000540732.3:c.1336G>A	ENSP00000443246.1:p.Val446Met
ENST00000544905.1:c.64G>A
ENST00000595085.5:c.922+1807G>A	ENSP00000471150.2:n.922+1807G>A
NM_000709.3:c.1234G>A	NP_000700.1:p.Val412Met
NM_001164783.1:c.1231G>A	NP_001158255.1:p.Val411Met
NM_000709.4:c.1234G>A MANE Select	NP_000700.1:p.Val412Met
NM_001164783.2:c.1231G>A	NP_001158255.1:p.Val411Met