Canonical Allele Identifier: CA2336459004

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422209T= , CM000681.2:g.41422209T=	GRCh38
NC_000019.9:g.41928114T= , CM000681.1:g.41928114T=	GRCh37
NC_000019.8:g.46619954T=	NCBI36
NG_013004.1:g.29421T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.692T= MANE Select	ENSP00000269980.2:p.Val231=
ENST00000269980.6:c.692T=	ENSP00000269980.2:p.Val231=
ENST00000457836.6:c.626T=	ENSP00000416000.2:p.Val209=
ENST00000535632.5:n.321T=
ENST00000540732.3:c.794T=	ENSP00000443246.1:p.Val265=
ENST00000541315.1:c.592T=
ENST00000542943.5:c.605T=	ENSP00000440345.1:p.Val202=
ENST00000545787.1:n.320T=
ENST00000595085.5:c.692T=	ENSP00000471150.2:p.Val231=
NM_000709.3:c.692T=	NP_000700.1:p.Val231=
NM_001164783.1:c.692T=	NP_001158255.1:p.Val231=
NM_000709.4:c.692T= MANE Select	NP_000700.1:p.Val231=
NM_001164783.2:c.692T=	NP_001158255.1:p.Val231=