Canonical Allele Identifier: CA347484815
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551856C>G , CM000664.2:g.85551856C>G GRCh38
NC_000002.11:g.85778979C>G , CM000664.1:g.85778979C>G GRCh37
NC_000002.10:g.85632490C>G NCBI36
NG_011811.2:g.14679G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6043G>C
ENST00000482662.2:n.4450G>C
ENST00000685865.1:n.2402G>C
ENST00000687250.1:n.2102G>C
ENST00000687995.1:n.1917G>C
ENST00000688205.1:c.*1158G>C ENSP00000509673.1:n.*1158G>C
ENST00000688788.1:n.1804G>C
ENST00000689276.1:c.1496G>C ENSP00000510012.1:p.Ser499Thr
ENST00000689576.1:c.*184G>C ENSP00000508712.1:n.*184G>C
ENST00000690108.1:c.*1221G>C ENSP00000510617.1:n.*1221G>C
ENST00000690468.1:c.*117G>C ENSP00000509078.1:n.*117G>C
ENST00000690595.1:c.890G>C ENSP00000508979.1:p.Ser297Thr
ENST00000691348.1:c.*117G>C ENSP00000509369.1:n.*117G>C
ENST00000691410.1:c.*1142G>C ENSP00000508479.1:n.*1142G>C
ENST00000693287.1:c.881G>C ENSP00000510264.1:p.Ser294Thr
ENST00000693681.1:c.878G>C ENSP00000510789.1:p.Ser293Thr
ENST00000233838.9:c.1565G>C MANE Select ENSP00000233838.3:p.Ser522Thr
ENST00000233838.8:c.1565G>C ENSP00000233838.3:p.Ser522Thr
ENST00000430215.7:c.1394G>C ENSP00000408045.3:p.Ser465Thr
ENST00000465637.5:n.179-3852G>C
NM_000821.5:c.1565G>C NP_000812.2:p.Ser522Thr
NM_000821.6:c.1565G>C NP_000812.2:p.Ser522Thr
NM_001142269.2:c.1394G>C NP_001135741.1:p.Ser465Thr
NM_001142269.3:c.1394G>C NP_001135741.1:p.Ser465Thr
XM_005264259.3:c.1565G>C XP_005264316.1:p.Ser522Thr
XM_011532764.1:c.743G>C XP_011531066.1:p.Ser248Thr
XM_011532765.1:c.743G>C XP_011531067.1:p.Ser248Thr
XR_939677.1:n.1478G>C
XM_005264259.5:c.1565G>C XP_005264316.1:p.Ser522Thr
XM_011532764.3:c.743G>C XP_011531066.1:p.Ser248Thr
XM_011532765.3:c.743G>C XP_011531067.1:p.Ser248Thr
XM_017003803.2:c.1394G>C XP_016859292.1:p.Ser465Thr
XR_001738703.2:n.1478G>C
NM_000821.7:c.1565G>C MANE Select NP_000812.2:p.Ser522Thr
NM_001142269.4:c.1394G>C NP_001135741.1:p.Ser465Thr