Canonical Allele Identifier: CA2336459986

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424374C= , CM000681.2:g.41424374C=	GRCh38
NC_000019.9:g.41930279C= , CM000681.1:g.41930279C=	GRCh37
NC_000019.8:g.46622119C=	NCBI36
NG_013004.1:g.31586C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-64C= MANE Select	ENSP00000269980.2:n.1168-64C=
ENST00000269980.6:c.1168-64C=	ENSP00000269980.2:n.1168-64C=
ENST00000457836.6:c.1177-64C=	ENSP00000416000.2:n.1177-64C=
ENST00000540732.3:c.1270-64C=	ENSP00000443246.1:n.1270-64C=
ENST00000544905.1:c.62-128C=
ENST00000595085.5:c.922+1677C=	ENSP00000471150.2:n.922+1677C=
NM_000709.3:c.1168-64C=	NP_000700.1:n.1168-64C=
NM_001164783.1:c.1165-64C=	NP_001158255.1:n.1165-64C=
NM_000709.4:c.1168-64C= MANE Select	NP_000700.1:n.1168-64C=
NM_001164783.2:c.1165-64C=	NP_001158255.1:n.1165-64C=