Canonical Allele Identifier: CA2336459403

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423030C= , CM000681.2:g.41423030C=	GRCh38
NC_000019.9:g.41928935C= , CM000681.1:g.41928935C=	GRCh37
NC_000019.8:g.46620775C=	NCBI36
NG_013004.1:g.30242C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1028C= MANE Select	ENSP00000269980.2:p.Ser343=
ENST00000269980.6:c.1028C=	ENSP00000269980.2:p.Ser343=
ENST00000457836.6:c.1037C=	ENSP00000416000.2:p.Ser346=
ENST00000540732.3:c.1130C=	ENSP00000443246.1:p.Ser377=
ENST00000542943.5:c.941C=	ENSP00000440345.1:p.Ser314=
ENST00000595085.5:c.922+333C=	ENSP00000471150.2:n.922+333C=
NM_000709.3:c.1028C=	NP_000700.1:p.Ser343=
NM_001164783.1:c.1025C=	NP_001158255.1:p.Ser342=
NM_000709.4:c.1028C= MANE Select	NP_000700.1:p.Ser343=
NM_001164783.2:c.1025C=	NP_001158255.1:p.Ser342=