Canonical Allele Identifier: CA347484859
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551874A>C , CM000664.2:g.85551874A>C GRCh38
NC_000002.11:g.85778997A>C , CM000664.1:g.85778997A>C GRCh37
NC_000002.10:g.85632508A>C NCBI36
NG_011811.2:g.14661T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6025T>G
ENST00000482662.2:n.4432T>G
ENST00000685865.1:n.2384T>G
ENST00000687250.1:n.2084T>G
ENST00000687995.1:n.1899T>G
ENST00000688205.1:c.*1140T>G ENSP00000509673.1:n.*1140T>G
ENST00000688788.1:n.1786T>G
ENST00000689276.1:c.1478T>G ENSP00000510012.1:p.Leu493Ter
ENST00000689576.1:c.*166T>G ENSP00000508712.1:n.*166T>G
ENST00000690108.1:c.*1203T>G ENSP00000510617.1:n.*1203T>G
ENST00000690468.1:c.*99T>G ENSP00000509078.1:n.*99T>G
ENST00000690595.1:c.872T>G ENSP00000508979.1:p.Leu291Ter
ENST00000691348.1:c.*99T>G ENSP00000509369.1:n.*99T>G
ENST00000691410.1:c.*1124T>G ENSP00000508479.1:n.*1124T>G
ENST00000693287.1:c.863T>G ENSP00000510264.1:p.Leu288Ter
ENST00000693681.1:c.860T>G ENSP00000510789.1:p.Leu287Ter
ENST00000233838.9:c.1547T>G MANE Select ENSP00000233838.3:p.Leu516Ter
ENST00000233838.8:c.1547T>G ENSP00000233838.3:p.Leu516Ter
ENST00000430215.7:c.1376T>G ENSP00000408045.3:p.Leu459Ter
ENST00000465637.5:n.179-3870T>G
NM_000821.5:c.1547T>G NP_000812.2:p.Leu516Ter
NM_000821.6:c.1547T>G NP_000812.2:p.Leu516Ter
NM_001142269.2:c.1376T>G NP_001135741.1:p.Leu459Ter
NM_001142269.3:c.1376T>G NP_001135741.1:p.Leu459Ter
XM_005264259.3:c.1547T>G XP_005264316.1:p.Leu516Ter
XM_011532764.1:c.725T>G XP_011531066.1:p.Leu242Ter
XM_011532765.1:c.725T>G XP_011531067.1:p.Leu242Ter
XR_939677.1:n.1460T>G
XM_005264259.5:c.1547T>G XP_005264316.1:p.Leu516Ter
XM_011532764.3:c.725T>G XP_011531066.1:p.Leu242Ter
XM_011532765.3:c.725T>G XP_011531067.1:p.Leu242Ter
XM_017003803.2:c.1376T>G XP_016859292.1:p.Leu459Ter
XR_001738703.2:n.1460T>G
NM_000821.7:c.1547T>G MANE Select NP_000812.2:p.Leu516Ter
NM_001142269.4:c.1376T>G NP_001135741.1:p.Leu459Ter