Canonical Allele Identifier: CA406010978

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419235C>G , CM000681.2:g.41419235C>G	GRCh38
NC_000019.9:g.41925140C>G , CM000681.1:g.41925140C>G	GRCh37
NC_000019.8:g.46616980C>G	NCBI36
NG_013004.1:g.26447C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.585C>G MANE Select	NP_000700.1:p.Tyr195Ter
ENST00000269980.7:c.585C>G MANE Select	ENSP00000269980.2:p.Tyr195Ter
NM_000709.3:c.585C>G	NP_000700.1:p.Tyr195Ter
NM_001164783.1:c.585C>G	NP_001158255.1:p.Tyr195Ter
NM_001164783.2:c.585C>G	NP_001158255.1:p.Tyr195Ter
ENST00000269980.6:c.585C>G	ENSP00000269980.2:p.Tyr195Ter
ENST00000457836.6:c.519C>G	ENSP00000416000.2:p.Tyr173Ter
ENST00000535632.5:n.214C>G
ENST00000538423.5:n.711C>G
ENST00000540732.3:c.687C>G	ENSP00000443246.1:p.Tyr229Ter
ENST00000541315.1:c.485C>G
ENST00000542943.5:c.498C>G	ENSP00000440345.1:p.Tyr166Ter
ENST00000545787.1:n.213C>G
ENST00000595085.5:c.585C>G	ENSP00000471150.2:p.Tyr195Ter