Canonical Allele Identifier: CA347484794
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551847T>G , CM000664.2:g.85551847T>G GRCh38
NC_000002.11:g.85778970T>G , CM000664.1:g.85778970T>G GRCh37
NC_000002.10:g.85632481T>G NCBI36
NG_011811.2:g.14688A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6052A>C
ENST00000482662.2:n.4459A>C
ENST00000685865.1:n.2411A>C
ENST00000687250.1:n.2111A>C
ENST00000687995.1:n.1926A>C
ENST00000688205.1:c.*1167A>C ENSP00000509673.1:n.*1167A>C
ENST00000688788.1:n.1813A>C
ENST00000689276.1:c.1505A>C ENSP00000510012.1:p.Asn502Thr
ENST00000689576.1:c.*193A>C ENSP00000508712.1:n.*193A>C
ENST00000690108.1:c.*1230A>C ENSP00000510617.1:n.*1230A>C
ENST00000690468.1:c.*126A>C ENSP00000509078.1:n.*126A>C
ENST00000690595.1:c.899A>C ENSP00000508979.1:p.Asn300Thr
ENST00000691348.1:c.*126A>C ENSP00000509369.1:n.*126A>C
ENST00000691410.1:c.*1151A>C ENSP00000508479.1:n.*1151A>C
ENST00000693287.1:c.890A>C ENSP00000510264.1:p.Asn297Thr
ENST00000693681.1:c.887A>C ENSP00000510789.1:p.Asn296Thr
ENST00000233838.9:c.1574A>C MANE Select ENSP00000233838.3:p.Asn525Thr
ENST00000233838.8:c.1574A>C ENSP00000233838.3:p.Asn525Thr
ENST00000430215.7:c.1403A>C ENSP00000408045.3:p.Asn468Thr
ENST00000465637.5:n.179-3843A>C
NM_000821.5:c.1574A>C NP_000812.2:p.Asn525Thr
NM_000821.6:c.1574A>C NP_000812.2:p.Asn525Thr
NM_001142269.2:c.1403A>C NP_001135741.1:p.Asn468Thr
NM_001142269.3:c.1403A>C NP_001135741.1:p.Asn468Thr
XM_005264259.3:c.1574A>C XP_005264316.1:p.Asn525Thr
XM_011532764.1:c.752A>C XP_011531066.1:p.Asn251Thr
XM_011532765.1:c.752A>C XP_011531067.1:p.Asn251Thr
XR_939677.1:n.1487A>C
XM_005264259.5:c.1574A>C XP_005264316.1:p.Asn525Thr
XM_011532764.3:c.752A>C XP_011531066.1:p.Asn251Thr
XM_011532765.3:c.752A>C XP_011531067.1:p.Asn251Thr
XM_017003803.2:c.1403A>C XP_016859292.1:p.Asn468Thr
XR_001738703.2:n.1487A>C
NM_000821.7:c.1574A>C MANE Select NP_000812.2:p.Asn525Thr
NM_001142269.4:c.1403A>C NP_001135741.1:p.Asn468Thr