Canonical Allele Identifier: CA2336459059

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422315C= , CM000681.2:g.41422315C=	GRCh38
NC_000019.9:g.41928220C= , CM000681.1:g.41928220C=	GRCh37
NC_000019.8:g.46620060C=	NCBI36
NG_013004.1:g.29527C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.798C= MANE Select	ENSP00000269980.2:p.Asn266=
ENST00000269980.6:c.798C=	ENSP00000269980.2:p.Asn266=
ENST00000457836.6:c.732C=	ENSP00000416000.2:p.Asn244=
ENST00000535632.5:n.427C=
ENST00000540732.3:c.900C=	ENSP00000443246.1:p.Asn300=
ENST00000542943.5:c.711C=	ENSP00000440345.1:p.Asn237=
ENST00000545787.1:n.426C=
ENST00000595085.5:c.798C=	ENSP00000471150.2:p.Asn266=
NM_000709.3:c.798C=	NP_000700.1:p.Asn266=
NM_001164783.1:c.798C=	NP_001158255.1:p.Asn266=
NM_000709.4:c.798C= MANE Select	NP_000700.1:p.Asn266=
NM_001164783.2:c.798C=	NP_001158255.1:p.Asn266=