Canonical Allele Identifier: CA2336453949

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410999C= , CM000681.2:g.41410999C=	GRCh38
NC_000019.9:g.41916904C= , CM000681.1:g.41916904C=	GRCh37
NC_000019.8:g.46608744C=	NCBI36
NG_013004.1:g.18211C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.365C= MANE Select	ENSP00000269980.2:p.Ser122=
ENST00000269980.6:c.365C=	ENSP00000269980.2:p.Ser122=
ENST00000457836.6:c.299C=	ENSP00000416000.2:p.Ser100=
ENST00000538423.5:n.491C=
ENST00000540732.3:c.467C=	ENSP00000443246.1:p.Ser156=
ENST00000541315.1:c.172C=
ENST00000542943.5:c.288+183C=	ENSP00000440345.1:n.288+183C=
ENST00000595085.5:c.365C=	ENSP00000471150.2:p.Ser122=
NM_000709.3:c.365C=	NP_000700.1:p.Ser122=
NM_001164783.1:c.365C=	NP_001158255.1:p.Ser122=
NM_000709.4:c.365C= MANE Select	NP_000700.1:p.Ser122=
NM_001164783.2:c.365C=	NP_001158255.1:p.Ser122=