Canonical Allele Identifier: CA2739614033

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424609G>A , CM000681.2:g.41424609G>A	GRCh38
NC_000019.9:g.41930514G>A , CM000681.1:g.41930514G>A	GRCh37
NC_000019.8:g.46622354G>A	NCBI36
NG_013004.1:g.31821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.*1G>A MANE Select	ENSP00000269980.2:n.*1G>A
ENST00000269980.6:c.*1G>A	ENSP00000269980.2:n.*1G>A
ENST00000457836.6:c.*1G>A	ENSP00000416000.2:n.*1G>A
ENST00000540732.3:c.*1G>A	ENSP00000443246.1:n.*1G>A
ENST00000544905.1:c.169G>A
ENST00000595085.5:c.922+1912G>A	ENSP00000471150.2:n.922+1912G>A
NM_000709.3:c.*1G>A	NP_000700.1:n.*1G>A
NM_001164783.1:c.*1G>A	NP_001158255.1:n.*1G>A
NM_000709.4:c.*1G>A MANE Select	NP_000700.1:n.*1G>A
NM_001164783.2:c.*1G>A	NP_001158255.1:n.*1G>A