Canonical Allele Identifier: CA2336459000

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422202A= , CM000681.2:g.41422202A=	GRCh38
NC_000019.9:g.41928107A= , CM000681.1:g.41928107A=	GRCh37
NC_000019.8:g.46619947A=	NCBI36
NG_013004.1:g.29414A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.685A= MANE Select	ENSP00000269980.2:p.Asn229=
ENST00000269980.6:c.685A=	ENSP00000269980.2:p.Asn229=
ENST00000457836.6:c.619A=	ENSP00000416000.2:p.Asn207=
ENST00000535632.5:n.314A=
ENST00000538423.5:n.811A=
ENST00000540732.3:c.787A=	ENSP00000443246.1:p.Asn263=
ENST00000541315.1:c.585A=
ENST00000542943.5:c.598A=	ENSP00000440345.1:p.Asn200=
ENST00000545787.1:n.313A=
ENST00000595085.5:c.685A=	ENSP00000471150.2:p.Asn229=
NM_000709.3:c.685A=	NP_000700.1:p.Asn229=
NM_001164783.1:c.685A=	NP_001158255.1:p.Asn229=
NM_000709.4:c.685A= MANE Select	NP_000700.1:p.Asn229=
NM_001164783.2:c.685A=	NP_001158255.1:p.Asn229=