Canonical Allele Identifier: CA347484832
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551862T>G , CM000664.2:g.85551862T>G GRCh38
NC_000002.11:g.85778985T>G , CM000664.1:g.85778985T>G GRCh37
NC_000002.10:g.85632496T>G NCBI36
NG_011811.2:g.14673A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6037A>C
ENST00000482662.2:n.4444A>C
ENST00000685865.1:n.2396A>C
ENST00000687250.1:n.2096A>C
ENST00000687995.1:n.1911A>C
ENST00000688205.1:c.*1152A>C ENSP00000509673.1:n.*1152A>C
ENST00000688788.1:n.1798A>C
ENST00000689276.1:c.1490A>C ENSP00000510012.1:p.Lys497Thr
ENST00000689576.1:c.*178A>C ENSP00000508712.1:n.*178A>C
ENST00000690108.1:c.*1215A>C ENSP00000510617.1:n.*1215A>C
ENST00000690468.1:c.*111A>C ENSP00000509078.1:n.*111A>C
ENST00000690595.1:c.884A>C ENSP00000508979.1:p.Lys295Thr
ENST00000691348.1:c.*111A>C ENSP00000509369.1:n.*111A>C
ENST00000691410.1:c.*1136A>C ENSP00000508479.1:n.*1136A>C
ENST00000693287.1:c.875A>C ENSP00000510264.1:p.Lys292Thr
ENST00000693681.1:c.872A>C ENSP00000510789.1:p.Lys291Thr
ENST00000233838.9:c.1559A>C MANE Select ENSP00000233838.3:p.Lys520Thr
ENST00000233838.8:c.1559A>C ENSP00000233838.3:p.Lys520Thr
ENST00000430215.7:c.1388A>C ENSP00000408045.3:p.Lys463Thr
ENST00000465637.5:n.179-3858A>C
NM_000821.5:c.1559A>C NP_000812.2:p.Lys520Thr
NM_000821.6:c.1559A>C NP_000812.2:p.Lys520Thr
NM_001142269.2:c.1388A>C NP_001135741.1:p.Lys463Thr
NM_001142269.3:c.1388A>C NP_001135741.1:p.Lys463Thr
XM_005264259.3:c.1559A>C XP_005264316.1:p.Lys520Thr
XM_011532764.1:c.737A>C XP_011531066.1:p.Lys246Thr
XM_011532765.1:c.737A>C XP_011531067.1:p.Lys246Thr
XR_939677.1:n.1472A>C
XM_005264259.5:c.1559A>C XP_005264316.1:p.Lys520Thr
XM_011532764.3:c.737A>C XP_011531066.1:p.Lys246Thr
XM_011532765.3:c.737A>C XP_011531067.1:p.Lys246Thr
XM_017003803.2:c.1388A>C XP_016859292.1:p.Lys463Thr
XR_001738703.2:n.1472A>C
NM_000821.7:c.1559A>C MANE Select NP_000812.2:p.Lys520Thr
NM_001142269.4:c.1388A>C NP_001135741.1:p.Lys463Thr