Canonical Allele Identifier: CA2336459388
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1024568
ClinVar RCV Id: RCV001324769
dbSNP Id: rs2039386647
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422989C>G , CM000681.2:g.41422989C>G GRCh38
NC_000019.9:g.41928894C>G , CM000681.1:g.41928894C>G GRCh37
NC_000019.8:g.46620734C>G NCBI36
NG_013004.1:g.30201C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-9C>G MANE Select ENSP00000269980.2:n.996-9C>G
ENST00000269980.6:c.996-9C>G ENSP00000269980.2:n.996-9C>G
ENST00000457836.6:c.996C>G ENSP00000416000.2:p.Pro332=
ENST00000540732.3:c.1098-9C>G ENSP00000443246.1:n.1098-9C>G
ENST00000542943.5:c.909-9C>G ENSP00000440345.1:n.909-9C>G
ENST00000595085.5:c.922+292C>G ENSP00000471150.2:n.922+292C>G
NM_000709.3:c.996-9C>G NP_000700.1:n.996-9C>G
NM_001164783.1:c.993-9C>G NP_001158255.1:n.993-9C>G
NM_000709.4:c.996-9C>G MANE Select NP_000700.1:n.996-9C>G
NM_001164783.2:c.993-9C>G NP_001158255.1:n.993-9C>G
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