Canonical Allele Identifier: CA406015395

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424508A>G , CM000681.2:g.41424508A>G	GRCh38
NC_000019.9:g.41930413A>G , CM000681.1:g.41930413A>G	GRCh37
NC_000019.8:g.46622253A>G	NCBI36
NG_013004.1:g.31720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1238A>G MANE Select	ENSP00000269980.2:p.Tyr413Cys
ENST00000269980.6:c.1238A>G	ENSP00000269980.2:p.Tyr413Cys
ENST00000457836.6:c.1247A>G	ENSP00000416000.2:p.Tyr416Cys
ENST00000540732.3:c.1340A>G	ENSP00000443246.1:p.Tyr447Cys
ENST00000544905.1:c.68A>G
ENST00000595085.5:c.922+1811A>G	ENSP00000471150.2:n.922+1811A>G
NM_000709.3:c.1238A>G	NP_000700.1:p.Tyr413Cys
NM_001164783.1:c.1235A>G	NP_001158255.1:p.Tyr412Cys
NM_000709.4:c.1238A>G MANE Select	NP_000700.1:p.Tyr413Cys
NM_001164783.2:c.1235A>G	NP_001158255.1:p.Tyr412Cys