Canonical Allele Identifier: CA347485010
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85551944-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551944A>C , CM000664.2:g.85551944A>C GRCh38
NC_000002.11:g.85779067A>C , CM000664.1:g.85779067A>C GRCh37
NC_000002.10:g.85632578A>C NCBI36
NG_011811.2:g.14591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5955T>G
ENST00000482662.2:n.4362T>G
ENST00000685865.1:n.2314T>G
ENST00000687250.1:n.2014T>G
ENST00000687995.1:n.1829T>G
ENST00000688205.1:c.*1070T>G ENSP00000509673.1:n.*1070T>G
ENST00000688788.1:n.1716T>G
ENST00000689276.1:c.1408T>G ENSP00000510012.1:p.Trp470Gly
ENST00000689576.1:c.*96T>G ENSP00000508712.1:n.*96T>G
ENST00000690108.1:c.*1133T>G ENSP00000510617.1:n.*1133T>G
ENST00000690468.1:c.*29T>G ENSP00000509078.1:n.*29T>G
ENST00000690595.1:c.802T>G ENSP00000508979.1:p.Trp268Gly
ENST00000691348.1:c.*29T>G ENSP00000509369.1:n.*29T>G
ENST00000691410.1:c.*1054T>G ENSP00000508479.1:n.*1054T>G
ENST00000693287.1:c.793T>G ENSP00000510264.1:p.Trp265Gly
ENST00000693681.1:c.790T>G ENSP00000510789.1:p.Trp264Gly
ENST00000233838.9:c.1477T>G MANE Select ENSP00000233838.3:p.Trp493Gly
ENST00000233838.8:c.1477T>G ENSP00000233838.3:p.Trp493Gly
ENST00000430215.7:c.1306T>G ENSP00000408045.3:p.Trp436Gly
ENST00000465637.5:n.179-3940T>G
NM_000821.5:c.1477T>G NP_000812.2:p.Trp493Gly
NM_000821.6:c.1477T>G NP_000812.2:p.Trp493Gly
NM_001142269.2:c.1306T>G NP_001135741.1:p.Trp436Gly
NM_001142269.3:c.1306T>G NP_001135741.1:p.Trp436Gly
XM_005264259.3:c.1477T>G XP_005264316.1:p.Trp493Gly
XM_011532764.1:c.655T>G XP_011531066.1:p.Trp219Gly
XM_011532765.1:c.655T>G XP_011531067.1:p.Trp219Gly
XR_939677.1:n.1390T>G
XM_005264259.5:c.1477T>G XP_005264316.1:p.Trp493Gly
XM_011532764.3:c.655T>G XP_011531066.1:p.Trp219Gly
XM_011532765.3:c.655T>G XP_011531067.1:p.Trp219Gly
XM_017003803.2:c.1306T>G XP_016859292.1:p.Trp436Gly
XR_001738703.2:n.1390T>G
NM_000821.7:c.1477T>G MANE Select NP_000812.2:p.Trp493Gly
NM_001142269.4:c.1306T>G NP_001135741.1:p.Trp436Gly