Canonical Allele Identifier: CA406004682

Gene: BCKDHA

Linked Data

• COSMIC: COSM5389853
• MyVariant Identifiers: chr19:g.41916614T>C (hg19) ; chr19:g.41410709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410709T>C , CM000681.2:g.41410709T>C	GRCh38
NC_000019.9:g.41916614T>C , CM000681.1:g.41916614T>C	GRCh37
NC_000019.8:g.46608454T>C	NCBI36
NG_013004.1:g.17921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.181T>C MANE Select	ENSP00000269980.2:p.Phe61Leu
ENST00000269980.6:c.181T>C	ENSP00000269980.2:p.Phe61Leu
ENST00000457836.6:c.115T>C	ENSP00000416000.2:p.Phe39Leu
ENST00000538423.5:n.201T>C
ENST00000540732.3:c.283T>C	ENSP00000443246.1:p.Phe95Leu
ENST00000542943.5:c.181T>C	ENSP00000440345.1:p.Phe61Leu
ENST00000595085.5:c.181T>C	ENSP00000471150.2:p.Phe61Leu
ENST00000604424.1:n.423T>C
NM_000709.3:c.181T>C	NP_000700.1:p.Phe61Leu
NM_001164783.1:c.181T>C	NP_001158255.1:p.Phe61Leu
NM_000709.4:c.181T>C MANE Select	NP_000700.1:p.Phe61Leu
NM_001164783.2:c.181T>C	NP_001158255.1:p.Phe61Leu