Canonical Allele Identifier: CA347488199

Gene: GGCX

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553413C>G , CM000664.2:g.85553413C>G	GRCh38
NC_000002.11:g.85780536C>G , CM000664.1:g.85780536C>G	GRCh37
NC_000002.10:g.85634047C>G	NCBI36
NG_011811.2:g.13122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5018G>C
ENST00000482662.2:n.3425G>C
ENST00000685865.1:n.1377G>C
ENST00000687250.1:n.1077G>C
ENST00000687995.1:n.1326G>C
ENST00000688205.1:c.*567G>C	ENSP00000509673.1:n.*567G>C
ENST00000688788.1:n.1213G>C
ENST00000689276.1:c.905G>C	ENSP00000510012.1:p.Arg302Pro
ENST00000689576.1:c.974G>C	ENSP00000508712.1:p.Arg325Pro
ENST00000690108.1:c.*630G>C	ENSP00000510617.1:n.*630G>C
ENST00000690468.1:c.695G>C	ENSP00000509078.1:p.Arg232Pro
ENST00000690595.1:c.299G>C	ENSP00000508979.1:p.Arg100Pro
ENST00000691348.1:c.803G>C	ENSP00000509369.1:p.Arg268Pro
ENST00000691410.1:c.*551G>C	ENSP00000508479.1:n.*551G>C
ENST00000693287.1:c.290G>C	ENSP00000510264.1:p.Arg97Pro
ENST00000693681.1:c.287G>C	ENSP00000510789.1:p.Arg96Pro
ENST00000233838.9:c.974G>C MANE Select	ENSP00000233838.3:p.Arg325Pro
ENST00000233838.8:c.974G>C	ENSP00000233838.3:p.Arg325Pro
ENST00000430215.7:c.803G>C	ENSP00000408045.3:p.Arg268Pro
ENST00000465637.5:n.179-5409G>C
ENST00000473665.1:n.467G>C
ENST00000482662.1:n.391G>C
NM_000821.5:c.974G>C	NP_000812.2:p.Arg325Pro
NM_000821.6:c.974G>C	NP_000812.2:p.Arg325Pro
NM_001142269.2:c.803G>C	NP_001135741.1:p.Arg268Pro
NM_001142269.3:c.803G>C	NP_001135741.1:p.Arg268Pro
XM_005264259.3:c.974G>C	XP_005264316.1:p.Arg325Pro
XM_011532764.1:c.152G>C	XP_011531066.1:p.Arg51Pro
XM_011532765.1:c.152G>C	XP_011531067.1:p.Arg51Pro
XR_939677.1:n.1039G>C
XM_005264259.5:c.974G>C	XP_005264316.1:p.Arg325Pro
XM_011532764.3:c.152G>C	XP_011531066.1:p.Arg51Pro
XM_011532765.3:c.152G>C	XP_011531067.1:p.Arg51Pro
XM_017003803.2:c.803G>C	XP_016859292.1:p.Arg268Pro
XR_001738703.2:n.1039G>C
NM_000821.7:c.974G>C MANE Select	NP_000812.2:p.Arg325Pro
NM_001142269.4:c.803G>C	NP_001135741.1:p.Arg268Pro