Canonical Allele Identifier: CA406013824

Gene: BCKDHA

Linked Data

• COSMIC: COSM1184563
• MyVariant Identifiers: chr19:g.41928941A>G (hg19) ; chr19:g.41423036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423036A>G , CM000681.2:g.41423036A>G	GRCh38
NC_000019.9:g.41928941A>G , CM000681.1:g.41928941A>G	GRCh37
NC_000019.8:g.46620781A>G	NCBI36
NG_013004.1:g.30248A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1034A>G MANE Select	ENSP00000269980.2:p.Tyr345Cys
ENST00000269980.6:c.1034A>G	ENSP00000269980.2:p.Tyr345Cys
ENST00000457836.6:c.1043A>G	ENSP00000416000.2:p.Tyr348Cys
ENST00000540732.3:c.1136A>G	ENSP00000443246.1:p.Tyr379Cys
ENST00000542943.5:c.947A>G	ENSP00000440345.1:p.Tyr316Cys
ENST00000595085.5:c.922+339A>G	ENSP00000471150.2:n.922+339A>G
NM_000709.3:c.1034A>G	NP_000700.1:p.Tyr345Cys
NM_001164783.1:c.1031A>G	NP_001158255.1:p.Tyr344Cys
NM_000709.4:c.1034A>G MANE Select	NP_000700.1:p.Tyr345Cys
NM_001164783.2:c.1031A>G	NP_001158255.1:p.Tyr344Cys