Canonical Allele Identifier: CA347488197

Gene: GGCX

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5018G>T
ENST00000482662.2:n.3425G>T
ENST00000685865.1:n.1377G>T
ENST00000687250.1:n.1077G>T
ENST00000687995.1:n.1326G>T
ENST00000688205.1:c.*567G>T	ENSP00000509673.1:n.*567G>T
ENST00000688788.1:n.1213G>T
ENST00000689276.1:c.905G>T	ENSP00000510012.1:p.Arg302Leu
ENST00000689576.1:c.974G>T	ENSP00000508712.1:p.Arg325Leu
ENST00000690108.1:c.*630G>T	ENSP00000510617.1:n.*630G>T
ENST00000690468.1:c.695G>T	ENSP00000509078.1:p.Arg232Leu
ENST00000690595.1:c.299G>T	ENSP00000508979.1:p.Arg100Leu
ENST00000691348.1:c.803G>T	ENSP00000509369.1:p.Arg268Leu
ENST00000691410.1:c.*551G>T	ENSP00000508479.1:n.*551G>T
ENST00000693287.1:c.290G>T	ENSP00000510264.1:p.Arg97Leu
ENST00000693681.1:c.287G>T	ENSP00000510789.1:p.Arg96Leu
ENST00000233838.9:c.974G>T MANE Select	ENSP00000233838.3:p.Arg325Leu
ENST00000233838.8:c.974G>T	ENSP00000233838.3:p.Arg325Leu
ENST00000430215.7:c.803G>T	ENSP00000408045.3:p.Arg268Leu
ENST00000465637.5:n.179-5409G>T
ENST00000473665.1:n.467G>T
ENST00000482662.1:n.391G>T
NM_000821.5:c.974G>T	NP_000812.2:p.Arg325Leu
NM_000821.6:c.974G>T	NP_000812.2:p.Arg325Leu
NM_001142269.2:c.803G>T	NP_001135741.1:p.Arg268Leu
NM_001142269.3:c.803G>T	NP_001135741.1:p.Arg268Leu
XM_005264259.3:c.974G>T	XP_005264316.1:p.Arg325Leu
XM_011532764.1:c.152G>T	XP_011531066.1:p.Arg51Leu
XM_011532765.1:c.152G>T	XP_011531067.1:p.Arg51Leu
XR_939677.1:n.1039G>T
XM_005264259.5:c.974G>T	XP_005264316.1:p.Arg325Leu
XM_011532764.3:c.152G>T	XP_011531066.1:p.Arg51Leu
XM_011532765.3:c.152G>T	XP_011531067.1:p.Arg51Leu
XM_017003803.2:c.803G>T	XP_016859292.1:p.Arg268Leu
XR_001738703.2:n.1039G>T
NM_000821.7:c.974G>T MANE Select	NP_000812.2:p.Arg325Leu
NM_001142269.4:c.803G>T	NP_001135741.1:p.Arg268Leu