Canonical Allele Identifier: CA347484799
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551848T>G , CM000664.2:g.85551848T>G GRCh38
NC_000002.11:g.85778971T>G , CM000664.1:g.85778971T>G GRCh37
NC_000002.10:g.85632482T>G NCBI36
NG_011811.2:g.14687A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6051A>C
ENST00000482662.2:n.4458A>C
ENST00000685865.1:n.2410A>C
ENST00000687250.1:n.2110A>C
ENST00000687995.1:n.1925A>C
ENST00000688205.1:c.*1166A>C ENSP00000509673.1:n.*1166A>C
ENST00000688788.1:n.1812A>C
ENST00000689276.1:c.1504A>C ENSP00000510012.1:p.Asn502His
ENST00000689576.1:c.*192A>C ENSP00000508712.1:n.*192A>C
ENST00000690108.1:c.*1229A>C ENSP00000510617.1:n.*1229A>C
ENST00000690468.1:c.*125A>C ENSP00000509078.1:n.*125A>C
ENST00000690595.1:c.898A>C ENSP00000508979.1:p.Asn300His
ENST00000691348.1:c.*125A>C ENSP00000509369.1:n.*125A>C
ENST00000691410.1:c.*1150A>C ENSP00000508479.1:n.*1150A>C
ENST00000693287.1:c.889A>C ENSP00000510264.1:p.Asn297His
ENST00000693681.1:c.886A>C ENSP00000510789.1:p.Asn296His
ENST00000233838.9:c.1573A>C MANE Select ENSP00000233838.3:p.Asn525His
ENST00000233838.8:c.1573A>C ENSP00000233838.3:p.Asn525His
ENST00000430215.7:c.1402A>C ENSP00000408045.3:p.Asn468His
ENST00000465637.5:n.179-3844A>C
NM_000821.5:c.1573A>C NP_000812.2:p.Asn525His
NM_000821.6:c.1573A>C NP_000812.2:p.Asn525His
NM_001142269.2:c.1402A>C NP_001135741.1:p.Asn468His
NM_001142269.3:c.1402A>C NP_001135741.1:p.Asn468His
XM_005264259.3:c.1573A>C XP_005264316.1:p.Asn525His
XM_011532764.1:c.751A>C XP_011531066.1:p.Asn251His
XM_011532765.1:c.751A>C XP_011531067.1:p.Asn251His
XR_939677.1:n.1486A>C
XM_005264259.5:c.1573A>C XP_005264316.1:p.Asn525His
XM_011532764.3:c.751A>C XP_011531066.1:p.Asn251His
XM_011532765.3:c.751A>C XP_011531067.1:p.Asn251His
XM_017003803.2:c.1402A>C XP_016859292.1:p.Asn468His
XR_001738703.2:n.1486A>C
NM_000821.7:c.1573A>C MANE Select NP_000812.2:p.Asn525His
NM_001142269.4:c.1402A>C NP_001135741.1:p.Asn468His