Canonical Allele Identifier: CA347486869
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85552980-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85552980G>T , CM000664.2:g.85552980G>T GRCh38
NC_000002.11:g.85780103G>T , CM000664.1:g.85780103G>T GRCh37
NC_000002.10:g.85633614G>T NCBI36
NG_011811.2:g.13555C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5290C>A
ENST00000482662.2:n.3697C>A
ENST00000685865.1:n.1649C>A
ENST00000687250.1:n.1349C>A
ENST00000687995.1:n.1598C>A
ENST00000688205.1:c.*839C>A ENSP00000509673.1:n.*839C>A
ENST00000688788.1:n.1485C>A
ENST00000689276.1:c.1177C>A ENSP00000510012.1:p.Arg393Ser
ENST00000689576.1:c.1246C>A ENSP00000508712.1:p.Arg416Ser
ENST00000690108.1:c.*902C>A ENSP00000510617.1:n.*902C>A
ENST00000690468.1:c.967C>A ENSP00000509078.1:p.Arg323Ser
ENST00000690595.1:c.571C>A ENSP00000508979.1:p.Arg191Ser
ENST00000691348.1:c.1075C>A ENSP00000509369.1:p.Arg359Ser
ENST00000691410.1:c.*823C>A ENSP00000508479.1:n.*823C>A
ENST00000693287.1:c.562C>A ENSP00000510264.1:p.Arg188Ser
ENST00000693681.1:c.559C>A ENSP00000510789.1:p.Arg187Ser
ENST00000233838.9:c.1246C>A MANE Select ENSP00000233838.3:p.Arg416Ser
ENST00000233838.8:c.1246C>A ENSP00000233838.3:p.Arg416Ser
ENST00000430215.7:c.1075C>A ENSP00000408045.3:p.Arg359Ser
ENST00000465637.5:n.179-4976C>A
ENST00000473665.1:n.739C>A
ENST00000482662.1:n.663C>A
NM_000821.5:c.1246C>A NP_000812.2:p.Arg416Ser
NM_000821.6:c.1246C>A NP_000812.2:p.Arg416Ser
NM_001142269.2:c.1075C>A NP_001135741.1:p.Arg359Ser
NM_001142269.3:c.1075C>A NP_001135741.1:p.Arg359Ser
XM_005264259.3:c.1246C>A XP_005264316.1:p.Arg416Ser
XM_011532764.1:c.424C>A XP_011531066.1:p.Arg142Ser
XM_011532765.1:c.424C>A XP_011531067.1:p.Arg142Ser
XR_939677.1:n.1311C>A
XM_005264259.5:c.1246C>A XP_005264316.1:p.Arg416Ser
XM_011532764.3:c.424C>A XP_011531066.1:p.Arg142Ser
XM_011532765.3:c.424C>A XP_011531067.1:p.Arg142Ser
XM_017003803.2:c.1075C>A XP_016859292.1:p.Arg359Ser
XR_001738703.2:n.1311C>A
NM_000821.7:c.1246C>A MANE Select NP_000812.2:p.Arg416Ser
NM_001142269.4:c.1075C>A NP_001135741.1:p.Arg359Ser