Canonical Allele Identifier: CA2336453821

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410783A= , CM000681.2:g.41410783A=	GRCh38
NC_000019.9:g.41916688A= , CM000681.1:g.41916688A=	GRCh37
NC_000019.8:g.46608528A=	NCBI36
NG_013004.1:g.17995A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.255A= MANE Select	ENSP00000269980.2:p.Gln85=
ENST00000269980.6:c.255A=	ENSP00000269980.2:p.Gln85=
ENST00000457836.6:c.189A=	ENSP00000416000.2:p.Gln63=
ENST00000538423.5:n.275A=
ENST00000540732.3:c.357A=	ENSP00000443246.1:p.Gln119=
ENST00000541315.1:c.62A=
ENST00000542943.5:c.255A=	ENSP00000440345.1:p.Gln85=
ENST00000595085.5:c.255A=	ENSP00000471150.2:p.Gln85=
ENST00000604424.1:n.497A=
NM_000709.3:c.255A=	NP_000700.1:p.Gln85=
NM_001164783.1:c.255A=	NP_001158255.1:p.Gln85=
NM_000709.4:c.255A= MANE Select	NP_000700.1:p.Gln85=
NM_001164783.2:c.255A=	NP_001158255.1:p.Gln85=