Canonical Allele Identifier: CA2336447798

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41397841T= , CM000681.2:g.41397841T=	GRCh38
NC_000019.9:g.41903746T= , CM000681.1:g.41903746T=	GRCh37
NC_000019.8:g.46595586T=	NCBI36
NG_013004.1:g.5053T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.14T= MANE Select	NP_000700.1:p.Ile5=
ENST00000269980.7:c.14T= MANE Select	ENSP00000269980.2:p.Ile5=
NM_000709.3:c.14T=	NP_000700.1:p.Ile5=
NM_001164783.1:c.14T=	NP_001158255.1:p.Ile5=
NM_001164783.2:c.14T=	NP_001158255.1:p.Ile5=
ENST00000269980.6:c.14T=	ENSP00000269980.2:p.Ile5=
ENST00000457836.6:c.14T=	ENSP00000416000.2:p.Ile5=
ENST00000538423.5:n.34T=
ENST00000540732.3:c.211-12796T=	ENSP00000443246.1:n.211-12796T=
ENST00000542943.5:c.14T=	ENSP00000440345.1:p.Ile5=
ENST00000595085.5:c.14T=	ENSP00000471150.2:p.Ile5=
ENST00000604424.1:n.351-12796T=