Canonical Allele Identifier: CA2814427656

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422875T>C , CM000681.2:g.41422875T>C	GRCh38
NC_000019.9:g.41928780T>C , CM000681.1:g.41928780T>C	GRCh37
NC_000019.8:g.46620620T>C	NCBI36
NG_013004.1:g.30087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+105T>C MANE Select	ENSP00000269980.2:n.995+105T>C
ENST00000269980.6:c.995+105T>C	ENSP00000269980.2:n.995+105T>C
ENST00000457836.6:c.930-48T>C	ENSP00000416000.2:n.930-48T>C
ENST00000540732.3:c.1097+105T>C	ENSP00000443246.1:n.1097+105T>C
ENST00000542943.5:c.908+105T>C	ENSP00000440345.1:n.908+105T>C
ENST00000595085.5:c.922+178T>C	ENSP00000471150.2:n.922+178T>C
NM_000709.3:c.995+105T>C	NP_000700.1:n.995+105T>C
NM_001164783.1:c.992+105T>C	NP_001158255.1:n.992+105T>C
NM_000709.4:c.995+105T>C MANE Select	NP_000700.1:n.995+105T>C
NM_001164783.2:c.992+105T>C	NP_001158255.1:n.992+105T>C