Canonical Allele Identifier: CA2739614044

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424615C>A , CM000681.2:g.41424615C>A	GRCh38
NC_000019.9:g.41930520C>A , CM000681.1:g.41930520C>A	GRCh37
NC_000019.8:g.46622360C>A	NCBI36
NG_013004.1:g.31827C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.*7C>A MANE Select	ENSP00000269980.2:n.*7C>A
ENST00000269980.6:c.*7C>A	ENSP00000269980.2:n.*7C>A
ENST00000457836.6:c.*7C>A	ENSP00000416000.2:n.*7C>A
ENST00000540732.3:c.*7C>A	ENSP00000443246.1:n.*7C>A
ENST00000544905.1:c.175C>A
ENST00000595085.5:c.922+1918C>A	ENSP00000471150.2:n.922+1918C>A
NM_000709.3:c.*7C>A	NP_000700.1:n.*7C>A
NM_001164783.1:c.*7C>A	NP_001158255.1:n.*7C>A
NM_000709.4:c.*7C>A MANE Select	NP_000700.1:n.*7C>A
NM_001164783.2:c.*7C>A	NP_001158255.1:n.*7C>A