Canonical Allele Identifier: CA2499225492

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1106715
• ClinVar RCV Id: RCV001431566
• dbSNP Id: rs2123253575

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410632C>T , CM000681.2:g.41410632C>T	GRCh38
NC_000019.9:g.41916537C>T , CM000681.1:g.41916537C>T	GRCh37
NC_000019.8:g.46608377C>T	NCBI36
NG_013004.1:g.17844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.109-5C>T MANE Select	ENSP00000269980.2:n.109-5C>T
ENST00000269980.6:c.109-5C>T	ENSP00000269980.2:n.109-5C>T
ENST00000457836.6:c.58-20C>T	ENSP00000416000.2:n.58-20C>T
ENST00000538423.5:n.129-5C>T
ENST00000540732.3:c.211-5C>T	ENSP00000443246.1:n.211-5C>T
ENST00000542943.5:c.109-5C>T	ENSP00000440345.1:n.109-5C>T
ENST00000595085.5:c.109-5C>T	ENSP00000471150.2:n.109-5C>T
ENST00000604424.1:n.351-5C>T
NM_000709.3:c.109-5C>T	NP_000700.1:n.109-5C>T
NM_001164783.1:c.109-5C>T	NP_001158255.1:n.109-5C>T
NM_000709.4:c.109-5C>T MANE Select	NP_000700.1:n.109-5C>T
NM_001164783.2:c.109-5C>T	NP_001158255.1:n.109-5C>T