Canonical Allele Identifier: CA2213320703

Gene: COG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417107C= , CM000678.2:g.23417107C=	GRCh38
NC_000016.9:g.23428428C= , CM000678.1:g.23428428C=	GRCh37
NC_000016.8:g.23335929C=	NCBI36
NG_021287.1:g.41085G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307149.10:c.1152G= MANE Select	ENSP00000305442.5:p.Val384=
ENST00000307149.9:c.1152G=	ENSP00000305442.5:p.Val384=
ENST00000567821.1:n.187G=
NM_153603.3:c.1152G=	NP_705831.1:p.Val384=
XR_429680.1:n.1368G=
XM_017023870.1:c.957G=	XP_016879359.1:p.Val319=
XR_002957852.1:n.1373G=
XR_429680.2:n.1373G=
NM_153603.4:c.1152G= MANE Select	NP_705831.1:p.Val384=