Canonical Allele Identifier: CA2336455341

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414098T= , CM000681.2:g.41414098T=	GRCh38
NC_000019.9:g.41920003T= , CM000681.1:g.41920003T=	GRCh37
NC_000019.8:g.46611843T=	NCBI36
NG_013004.1:g.21310T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.425T= MANE Select	ENSP00000269980.2:p.Val142=
ENST00000269980.6:c.425T=	ENSP00000269980.2:p.Val142=
ENST00000457836.6:c.359T=	ENSP00000416000.2:p.Val120=
ENST00000538423.5:n.551T=
ENST00000540732.3:c.527T=	ENSP00000443246.1:p.Val176=
ENST00000541315.1:c.232T=
ENST00000542943.5:c.338T=	ENSP00000440345.1:p.Val113=
ENST00000595085.5:c.425T=	ENSP00000471150.2:p.Val142=
NM_000709.3:c.425T=	NP_000700.1:p.Val142=
NM_001164783.1:c.425T=	NP_001158255.1:p.Val142=
NM_000709.4:c.425T= MANE Select	NP_000700.1:p.Val142=
NM_001164783.2:c.425T=	NP_001158255.1:p.Val142=