Canonical Allele Identifier: CA2739614042

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424613T>G , CM000681.2:g.41424613T>G	GRCh38
NC_000019.9:g.41930518T>G , CM000681.1:g.41930518T>G	GRCh37
NC_000019.8:g.46622358T>G	NCBI36
NG_013004.1:g.31825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.*5T>G MANE Select	ENSP00000269980.2:n.*5T>G
ENST00000269980.6:c.*5T>G	ENSP00000269980.2:n.*5T>G
ENST00000457836.6:c.*5T>G	ENSP00000416000.2:n.*5T>G
ENST00000540732.3:c.*5T>G	ENSP00000443246.1:n.*5T>G
ENST00000544905.1:c.173T>G
ENST00000595085.5:c.922+1916T>G	ENSP00000471150.2:n.922+1916T>G
NM_000709.3:c.*5T>G	NP_000700.1:n.*5T>G
NM_001164783.1:c.*5T>G	NP_001158255.1:n.*5T>G
NM_000709.4:c.*5T>G MANE Select	NP_000700.1:n.*5T>G
NM_001164783.2:c.*5T>G	NP_001158255.1:n.*5T>G