Canonical Allele Identifier: CA2213320716

Gene: COG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417119C= , CM000678.2:g.23417119C=	GRCh38
NC_000016.9:g.23428440C= , CM000678.1:g.23428440C=	GRCh37
NC_000016.8:g.23335941C=	NCBI36
NG_021287.1:g.41073G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1140G= MANE Select	ENSP00000305442.5:p.Glu380=
ENST00000307149.9:c.1140G=	ENSP00000305442.5:p.Glu380=
ENST00000567821.1:n.175G=
NM_153603.3:c.1140G=	NP_705831.1:p.Glu380=
XR_429680.1:n.1356G=
XM_017023870.1:c.945G=	XP_016879359.1:p.Glu315=
XR_002957852.1:n.1361G=
XR_429680.2:n.1361G=
NM_153603.4:c.1140G= MANE Select	NP_705831.1:p.Glu380=