Canonical Allele Identifier: CA2336455368

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414143A= , CM000681.2:g.41414143A=	GRCh38
NC_000019.9:g.41920048A= , CM000681.1:g.41920048A=	GRCh37
NC_000019.8:g.46611888A=	NCBI36
NG_013004.1:g.21355A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.470A= MANE Select	NP_000700.1:p.Gln157=
ENST00000269980.7:c.470A= MANE Select	ENSP00000269980.2:p.Gln157=
NM_000709.3:c.470A=	NP_000700.1:p.Gln157=
NM_001164783.1:c.470A=	NP_001158255.1:p.Gln157=
NM_001164783.2:c.470A=	NP_001158255.1:p.Gln157=
ENST00000269980.6:c.470A=	ENSP00000269980.2:p.Gln157=
ENST00000457836.6:c.404A=	ENSP00000416000.2:p.Gln135=
ENST00000538423.5:n.596A=
ENST00000540732.3:c.572A=	ENSP00000443246.1:p.Gln191=
ENST00000541315.1:c.277A=
ENST00000542943.5:c.383A=	ENSP00000440345.1:p.Gln128=
ENST00000595085.5:c.470A=	ENSP00000471150.2:p.Gln157=