Canonical Allele Identifier: CA406012979

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422317A>G , CM000681.2:g.41422317A>G	GRCh38
NC_000019.9:g.41928222A>G , CM000681.1:g.41928222A>G	GRCh37
NC_000019.8:g.46620062A>G	NCBI36
NG_013004.1:g.29529A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.800A>G MANE Select	NP_000700.1:p.Asn267Ser
ENST00000269980.7:c.800A>G MANE Select	ENSP00000269980.2:p.Asn267Ser
NM_000709.3:c.800A>G	NP_000700.1:p.Asn267Ser
NM_001164783.1:c.800A>G	NP_001158255.1:p.Asn267Ser
NM_001164783.2:c.800A>G	NP_001158255.1:p.Asn267Ser
ENST00000269980.6:c.800A>G	ENSP00000269980.2:p.Asn267Ser
ENST00000457836.6:c.734A>G	ENSP00000416000.2:p.Asn245Ser
ENST00000535632.5:n.429A>G
ENST00000540732.3:c.902A>G	ENSP00000443246.1:p.Asn301Ser
ENST00000542943.5:c.713A>G	ENSP00000440345.1:p.Asn238Ser
ENST00000545787.1:n.428A>G
ENST00000595085.5:c.800A>G	ENSP00000471150.2:p.Asn267Ser