Canonical Allele Identifier: CA3233783905

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414072C= , CM000681.2:g.41414072C=	GRCh38
NC_000019.9:g.41919977C= , CM000681.1:g.41919977C=	GRCh37
NC_000019.8:g.46611817C=	NCBI36
NG_013004.1:g.21284C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.399C= MANE Select	NP_000700.1:p.Thr133=
ENST00000269980.7:c.399C= MANE Select	ENSP00000269980.2:p.Thr133=
NM_000709.3:c.399C=	NP_000700.1:p.Thr133=
NM_001164783.1:c.399C=	NP_001158255.1:p.Thr133=
NM_001164783.2:c.399C=	NP_001158255.1:p.Thr133=
ENST00000269980.6:c.399C=	ENSP00000269980.2:p.Thr133=
ENST00000457836.6:c.333C=	ENSP00000416000.2:p.Thr111=
ENST00000538423.5:n.525C=
ENST00000540732.3:c.501C=	ENSP00000443246.1:p.Thr167=
ENST00000541315.1:c.206C=
ENST00000542943.5:c.312C=	ENSP00000440345.1:p.Thr104=
ENST00000595085.5:c.399C=	ENSP00000471150.2:p.Thr133=