Canonical Allele Identifier: CA347487153

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780177G>A (hg19) ; chr2:g.85553054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553054G>A , CM000664.2:g.85553054G>A	GRCh38
NC_000002.11:g.85780177G>A , CM000664.1:g.85780177G>A	GRCh37
NC_000002.10:g.85633688G>A	NCBI36
NG_011811.2:g.13481C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5216C>T
ENST00000482662.2:n.3623C>T
ENST00000685865.1:n.1575C>T
ENST00000687250.1:n.1275C>T
ENST00000687995.1:n.1524C>T
ENST00000688205.1:c.*765C>T	ENSP00000509673.1:n.*765C>T
ENST00000688788.1:n.1411C>T
ENST00000689276.1:c.1103C>T	ENSP00000510012.1:p.Thr368Ile
ENST00000689576.1:c.1172C>T	ENSP00000508712.1:p.Thr391Ile
ENST00000690108.1:c.*828C>T	ENSP00000510617.1:n.*828C>T
ENST00000690468.1:c.893C>T	ENSP00000509078.1:p.Thr298Ile
ENST00000690595.1:c.497C>T	ENSP00000508979.1:p.Thr166Ile
ENST00000691348.1:c.1001C>T	ENSP00000509369.1:p.Thr334Ile
ENST00000691410.1:c.*749C>T	ENSP00000508479.1:n.*749C>T
ENST00000693287.1:c.488C>T	ENSP00000510264.1:p.Thr163Ile
ENST00000693681.1:c.485C>T	ENSP00000510789.1:p.Thr162Ile
ENST00000233838.9:c.1172C>T MANE Select	ENSP00000233838.3:p.Thr391Ile
ENST00000233838.8:c.1172C>T	ENSP00000233838.3:p.Thr391Ile
ENST00000430215.7:c.1001C>T	ENSP00000408045.3:p.Thr334Ile
ENST00000465637.5:n.179-5050C>T
ENST00000473665.1:n.665C>T
ENST00000482662.1:n.589C>T
NM_000821.5:c.1172C>T	NP_000812.2:p.Thr391Ile
NM_000821.6:c.1172C>T	NP_000812.2:p.Thr391Ile
NM_001142269.2:c.1001C>T	NP_001135741.1:p.Thr334Ile
NM_001142269.3:c.1001C>T	NP_001135741.1:p.Thr334Ile
XM_005264259.3:c.1172C>T	XP_005264316.1:p.Thr391Ile
XM_011532764.1:c.350C>T	XP_011531066.1:p.Thr117Ile
XM_011532765.1:c.350C>T	XP_011531067.1:p.Thr117Ile
XR_939677.1:n.1237C>T
XM_005264259.5:c.1172C>T	XP_005264316.1:p.Thr391Ile
XM_011532764.3:c.350C>T	XP_011531066.1:p.Thr117Ile
XM_011532765.3:c.350C>T	XP_011531067.1:p.Thr117Ile
XM_017003803.2:c.1001C>T	XP_016859292.1:p.Thr334Ile
XR_001738703.2:n.1237C>T
NM_000821.7:c.1172C>T MANE Select	NP_000812.2:p.Thr391Ile
NM_001142269.4:c.1001C>T	NP_001135741.1:p.Thr334Ile