Canonical Allele Identifier: CA2336455318

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414057C= , CM000681.2:g.41414057C=	GRCh38
NC_000019.9:g.41919962C= , CM000681.1:g.41919962C=	GRCh37
NC_000019.8:g.46611802C=	NCBI36
NG_013004.1:g.21269C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.384C= MANE Select	ENSP00000269980.2:p.Ile128=
ENST00000269980.6:c.384C=	ENSP00000269980.2:p.Ile128=
ENST00000457836.6:c.318C=	ENSP00000416000.2:p.Ile106=
ENST00000538423.5:n.510C=
ENST00000540732.3:c.486C=	ENSP00000443246.1:p.Ile162=
ENST00000541315.1:c.191C=
ENST00000542943.5:c.297C=	ENSP00000440345.1:p.Ile99=
ENST00000595085.5:c.384C=	ENSP00000471150.2:p.Ile128=
NM_000709.3:c.384C=	NP_000700.1:p.Ile128=
NM_001164783.1:c.384C=	NP_001158255.1:p.Ile128=
NM_000709.4:c.384C= MANE Select	NP_000700.1:p.Ile128=
NM_001164783.2:c.384C=	NP_001158255.1:p.Ile128=