Canonical Allele Identifier: CA347486978
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553012G>C , CM000664.2:g.85553012G>C GRCh38
NC_000002.11:g.85780135G>C , CM000664.1:g.85780135G>C GRCh37
NC_000002.10:g.85633646G>C NCBI36
NG_011811.2:g.13523C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5258C>G
ENST00000482662.2:n.3665C>G
ENST00000685865.1:n.1617C>G
ENST00000687250.1:n.1317C>G
ENST00000687995.1:n.1566C>G
ENST00000688205.1:c.*807C>G ENSP00000509673.1:n.*807C>G
ENST00000688788.1:n.1453C>G
ENST00000689276.1:c.1145C>G ENSP00000510012.1:p.Ser382Cys
ENST00000689576.1:c.1214C>G ENSP00000508712.1:p.Ser405Cys
ENST00000690108.1:c.*870C>G ENSP00000510617.1:n.*870C>G
ENST00000690468.1:c.935C>G ENSP00000509078.1:p.Ser312Cys
ENST00000690595.1:c.539C>G ENSP00000508979.1:p.Ser180Cys
ENST00000691348.1:c.1043C>G ENSP00000509369.1:p.Ser348Cys
ENST00000691410.1:c.*791C>G ENSP00000508479.1:n.*791C>G
ENST00000693287.1:c.530C>G ENSP00000510264.1:p.Ser177Cys
ENST00000693681.1:c.527C>G ENSP00000510789.1:p.Ser176Cys
ENST00000233838.9:c.1214C>G MANE Select ENSP00000233838.3:p.Ser405Cys
ENST00000233838.8:c.1214C>G ENSP00000233838.3:p.Ser405Cys
ENST00000430215.7:c.1043C>G ENSP00000408045.3:p.Ser348Cys
ENST00000465637.5:n.179-5008C>G
ENST00000473665.1:n.707C>G
ENST00000482662.1:n.631C>G
NM_000821.5:c.1214C>G NP_000812.2:p.Ser405Cys
NM_000821.6:c.1214C>G NP_000812.2:p.Ser405Cys
NM_001142269.2:c.1043C>G NP_001135741.1:p.Ser348Cys
NM_001142269.3:c.1043C>G NP_001135741.1:p.Ser348Cys
XM_005264259.3:c.1214C>G XP_005264316.1:p.Ser405Cys
XM_011532764.1:c.392C>G XP_011531066.1:p.Ser131Cys
XM_011532765.1:c.392C>G XP_011531067.1:p.Ser131Cys
XR_939677.1:n.1279C>G
XM_005264259.5:c.1214C>G XP_005264316.1:p.Ser405Cys
XM_011532764.3:c.392C>G XP_011531066.1:p.Ser131Cys
XM_011532765.3:c.392C>G XP_011531067.1:p.Ser131Cys
XM_017003803.2:c.1043C>G XP_016859292.1:p.Ser348Cys
XR_001738703.2:n.1279C>G
NM_000821.7:c.1214C>G MANE Select NP_000812.2:p.Ser405Cys
NM_001142269.4:c.1043C>G NP_001135741.1:p.Ser348Cys