Canonical Allele Identifier: CA347484731
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551818A>T , CM000664.2:g.85551818A>T GRCh38
NC_000002.11:g.85778941A>T , CM000664.1:g.85778941A>T GRCh37
NC_000002.10:g.85632452A>T NCBI36
NG_011811.2:g.14717T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6081T>A
ENST00000482662.2:n.4488T>A
ENST00000685865.1:n.2440T>A
ENST00000687250.1:n.2140T>A
ENST00000687995.1:n.1955T>A
ENST00000688205.1:c.*1196T>A ENSP00000509673.1:n.*1196T>A
ENST00000688788.1:n.1842T>A
ENST00000689276.1:c.1534T>A ENSP00000510012.1:p.Phe512Ile
ENST00000689576.1:c.*222T>A ENSP00000508712.1:n.*222T>A
ENST00000690108.1:c.*1259T>A ENSP00000510617.1:n.*1259T>A
ENST00000690468.1:c.*155T>A ENSP00000509078.1:n.*155T>A
ENST00000690595.1:c.928T>A ENSP00000508979.1:p.Phe310Ile
ENST00000691348.1:c.*155T>A ENSP00000509369.1:n.*155T>A
ENST00000691410.1:c.*1180T>A ENSP00000508479.1:n.*1180T>A
ENST00000693287.1:c.919T>A ENSP00000510264.1:p.Phe307Ile
ENST00000693681.1:c.916T>A ENSP00000510789.1:p.Phe306Ile
ENST00000233838.9:c.1603T>A MANE Select ENSP00000233838.3:p.Phe535Ile
ENST00000233838.8:c.1603T>A ENSP00000233838.3:p.Phe535Ile
ENST00000430215.7:c.1432T>A ENSP00000408045.3:p.Phe478Ile
ENST00000465637.5:n.179-3814T>A
NM_000821.5:c.1603T>A NP_000812.2:p.Phe535Ile
NM_000821.6:c.1603T>A NP_000812.2:p.Phe535Ile
NM_001142269.2:c.1432T>A NP_001135741.1:p.Phe478Ile
NM_001142269.3:c.1432T>A NP_001135741.1:p.Phe478Ile
XM_005264259.3:c.1603T>A XP_005264316.1:p.Phe535Ile
XM_011532764.1:c.781T>A XP_011531066.1:p.Phe261Ile
XM_011532765.1:c.781T>A XP_011531067.1:p.Phe261Ile
XR_939677.1:n.1516T>A
XM_005264259.5:c.1603T>A XP_005264316.1:p.Phe535Ile
XM_011532764.3:c.781T>A XP_011531066.1:p.Phe261Ile
XM_011532765.3:c.781T>A XP_011531067.1:p.Phe261Ile
XM_017003803.2:c.1432T>A XP_016859292.1:p.Phe478Ile
XR_001738703.2:n.1516T>A
NM_000821.7:c.1603T>A MANE Select NP_000812.2:p.Phe535Ile
NM_001142269.4:c.1432T>A NP_001135741.1:p.Phe478Ile