Canonical Allele Identifier: CA347484868
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551877T>G , CM000664.2:g.85551877T>G GRCh38
NC_000002.11:g.85779000T>G , CM000664.1:g.85779000T>G GRCh37
NC_000002.10:g.85632511T>G NCBI36
NG_011811.2:g.14658A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6022A>C
ENST00000482662.2:n.4429A>C
ENST00000685865.1:n.2381A>C
ENST00000687250.1:n.2081A>C
ENST00000687995.1:n.1896A>C
ENST00000688205.1:c.*1137A>C ENSP00000509673.1:n.*1137A>C
ENST00000688788.1:n.1783A>C
ENST00000689276.1:c.1475A>C ENSP00000510012.1:p.Lys492Thr
ENST00000689576.1:c.*163A>C ENSP00000508712.1:n.*163A>C
ENST00000690108.1:c.*1200A>C ENSP00000510617.1:n.*1200A>C
ENST00000690468.1:c.*96A>C ENSP00000509078.1:n.*96A>C
ENST00000690595.1:c.869A>C ENSP00000508979.1:p.Lys290Thr
ENST00000691348.1:c.*96A>C ENSP00000509369.1:n.*96A>C
ENST00000691410.1:c.*1121A>C ENSP00000508479.1:n.*1121A>C
ENST00000693287.1:c.860A>C ENSP00000510264.1:p.Lys287Thr
ENST00000693681.1:c.857A>C ENSP00000510789.1:p.Lys286Thr
ENST00000233838.9:c.1544A>C MANE Select ENSP00000233838.3:p.Lys515Thr
ENST00000233838.8:c.1544A>C ENSP00000233838.3:p.Lys515Thr
ENST00000430215.7:c.1373A>C ENSP00000408045.3:p.Lys458Thr
ENST00000465637.5:n.179-3873A>C
NM_000821.5:c.1544A>C NP_000812.2:p.Lys515Thr
NM_000821.6:c.1544A>C NP_000812.2:p.Lys515Thr
NM_001142269.2:c.1373A>C NP_001135741.1:p.Lys458Thr
NM_001142269.3:c.1373A>C NP_001135741.1:p.Lys458Thr
XM_005264259.3:c.1544A>C XP_005264316.1:p.Lys515Thr
XM_011532764.1:c.722A>C XP_011531066.1:p.Lys241Thr
XM_011532765.1:c.722A>C XP_011531067.1:p.Lys241Thr
XR_939677.1:n.1457A>C
XM_005264259.5:c.1544A>C XP_005264316.1:p.Lys515Thr
XM_011532764.3:c.722A>C XP_011531066.1:p.Lys241Thr
XM_011532765.3:c.722A>C XP_011531067.1:p.Lys241Thr
XM_017003803.2:c.1373A>C XP_016859292.1:p.Lys458Thr
XR_001738703.2:n.1457A>C
NM_000821.7:c.1544A>C MANE Select NP_000812.2:p.Lys515Thr
NM_001142269.4:c.1373A>C NP_001135741.1:p.Lys458Thr