Canonical Allele Identifier: CA347484812
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551855G>C , CM000664.2:g.85551855G>C GRCh38
NC_000002.11:g.85778978G>C , CM000664.1:g.85778978G>C GRCh37
NC_000002.10:g.85632489G>C NCBI36
NG_011811.2:g.14680C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6044C>G
ENST00000482662.2:n.4451C>G
ENST00000685865.1:n.2403C>G
ENST00000687250.1:n.2103C>G
ENST00000687995.1:n.1918C>G
ENST00000688205.1:c.*1159C>G ENSP00000509673.1:n.*1159C>G
ENST00000688788.1:n.1805C>G
ENST00000689276.1:c.1497C>G ENSP00000510012.1:p.Ser499Arg
ENST00000689576.1:c.*185C>G ENSP00000508712.1:n.*185C>G
ENST00000690108.1:c.*1222C>G ENSP00000510617.1:n.*1222C>G
ENST00000690468.1:c.*118C>G ENSP00000509078.1:n.*118C>G
ENST00000690595.1:c.891C>G ENSP00000508979.1:p.Ser297Arg
ENST00000691348.1:c.*118C>G ENSP00000509369.1:n.*118C>G
ENST00000691410.1:c.*1143C>G ENSP00000508479.1:n.*1143C>G
ENST00000693287.1:c.882C>G ENSP00000510264.1:p.Ser294Arg
ENST00000693681.1:c.879C>G ENSP00000510789.1:p.Ser293Arg
ENST00000233838.9:c.1566C>G MANE Select ENSP00000233838.3:p.Ser522Arg
ENST00000233838.8:c.1566C>G ENSP00000233838.3:p.Ser522Arg
ENST00000430215.7:c.1395C>G ENSP00000408045.3:p.Ser465Arg
ENST00000465637.5:n.179-3851C>G
NM_000821.5:c.1566C>G NP_000812.2:p.Ser522Arg
NM_000821.6:c.1566C>G NP_000812.2:p.Ser522Arg
NM_001142269.2:c.1395C>G NP_001135741.1:p.Ser465Arg
NM_001142269.3:c.1395C>G NP_001135741.1:p.Ser465Arg
XM_005264259.3:c.1566C>G XP_005264316.1:p.Ser522Arg
XM_011532764.1:c.744C>G XP_011531066.1:p.Ser248Arg
XM_011532765.1:c.744C>G XP_011531067.1:p.Ser248Arg
XR_939677.1:n.1479C>G
XM_005264259.5:c.1566C>G XP_005264316.1:p.Ser522Arg
XM_011532764.3:c.744C>G XP_011531066.1:p.Ser248Arg
XM_011532765.3:c.744C>G XP_011531067.1:p.Ser248Arg
XM_017003803.2:c.1395C>G XP_016859292.1:p.Ser465Arg
XR_001738703.2:n.1479C>G
NM_000821.7:c.1566C>G MANE Select NP_000812.2:p.Ser522Arg
NM_001142269.4:c.1395C>G NP_001135741.1:p.Ser465Arg