Canonical Allele Identifier: CA2336459192

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422613C= , CM000681.2:g.41422613C=	GRCh38
NC_000019.9:g.41928518C= , CM000681.1:g.41928518C=	GRCh37
NC_000019.8:g.46620358C=	NCBI36
NG_013004.1:g.29825C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-16C= MANE Select	ENSP00000269980.2:n.854-16C=
ENST00000269980.6:c.854-16C=	ENSP00000269980.2:n.854-16C=
ENST00000457836.6:c.788-16C=	ENSP00000416000.2:n.788-16C=
ENST00000535632.5:n.483-16C=
ENST00000540732.3:c.956-16C=	ENSP00000443246.1:n.956-16C=
ENST00000542943.5:c.767-16C=	ENSP00000440345.1:n.767-16C=
ENST00000545787.1:n.482-16C=
ENST00000595085.5:c.854-16C=	ENSP00000471150.2:n.854-16C=
NM_000709.3:c.854-16C=	NP_000700.1:n.854-16C=
NM_001164783.1:c.854-19C=	NP_001158255.1:n.854-19C=
NM_000709.4:c.854-16C= MANE Select	NP_000700.1:n.854-16C=
NM_001164783.2:c.854-19C=	NP_001158255.1:n.854-19C=