Canonical Allele Identifier: CA2336460050

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424511A= , CM000681.2:g.41424511A=	GRCh38
NC_000019.9:g.41930416A= , CM000681.1:g.41930416A=	GRCh37
NC_000019.8:g.46622256A=	NCBI36
NG_013004.1:g.31723A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1241A= MANE Select	ENSP00000269980.2:p.Gln414=
ENST00000269980.6:c.1241A=	ENSP00000269980.2:p.Gln414=
ENST00000457836.6:c.1250A=	ENSP00000416000.2:p.Gln417=
ENST00000540732.3:c.1343A=	ENSP00000443246.1:p.Gln448=
ENST00000544905.1:c.71A=
ENST00000595085.5:c.922+1814A=	ENSP00000471150.2:n.922+1814A=
NM_000709.3:c.1241A=	NP_000700.1:p.Gln414=
NM_001164783.1:c.1238A=	NP_001158255.1:p.Gln413=
NM_000709.4:c.1241A= MANE Select	NP_000700.1:p.Gln414=
NM_001164783.2:c.1238A=	NP_001158255.1:p.Gln413=