Canonical Allele Identifier: CA115510
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2378
ClinVar RCV Id: RCV000002476 RCV000002477 RCV001378888
dbSNP Id: rs137852872
MyVariant Identifiers: chr19:g.41930401T>G (hg19) chr19:g.41424496T>G (hg38)
PubMed: PMID:7883996 PMID:9582350
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424496T>G , CM000681.2:g.41424496T>G GRCh38
NC_000019.9:g.41930401T>G , CM000681.1:g.41930401T>G GRCh37
NC_000019.8:g.46622241T>G NCBI36
NG_013004.1:g.31708T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.1226T>G MANE Select ENSP00000269980.2:p.Phe409Cys
ENST00000269980.6:c.1226T>G ENSP00000269980.2:p.Phe409Cys
ENST00000457836.6:c.1235T>G ENSP00000416000.2:p.Phe412Cys
ENST00000540732.3:c.1328T>G ENSP00000443246.1:p.Phe443Cys
ENST00000544905.1:c.62-6T>G
ENST00000595085.5:c.922+1799T>G ENSP00000471150.2:n.922+1799T>G
NM_000709.3:c.1226T>G NP_000700.1:p.Phe409Cys
NM_001164783.1:c.1223T>G NP_001158255.1:p.Phe408Cys
NM_000709.4:c.1226T>G MANE Select NP_000700.1:p.Phe409Cys
NM_001164783.2:c.1223T>G NP_001158255.1:p.Phe408Cys
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