Canonical Allele Identifier: CA2336459209

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422655A= , CM000681.2:g.41422655A=	GRCh38
NC_000019.9:g.41928560A= , CM000681.1:g.41928560A=	GRCh37
NC_000019.8:g.46620400A=	NCBI36
NG_013004.1:g.29867A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.880A= MANE Select	ENSP00000269980.2:p.Met294=
ENST00000269980.6:c.880A=	ENSP00000269980.2:p.Met294=
ENST00000457836.6:c.814A=	ENSP00000416000.2:p.Met272=
ENST00000535632.5:n.509A=
ENST00000540732.3:c.982A=	ENSP00000443246.1:p.Met328=
ENST00000542943.5:c.793A=	ENSP00000440345.1:p.Met265=
ENST00000545787.1:n.508A=
ENST00000595085.5:c.880A=	ENSP00000471150.2:p.Met294=
NM_000709.3:c.880A=	NP_000700.1:p.Met294=
NM_001164783.1:c.877A=	NP_001158255.1:p.Met293=
NM_000709.4:c.880A= MANE Select	NP_000700.1:p.Met294=
NM_001164783.2:c.877A=	NP_001158255.1:p.Met293=