Canonical Allele Identifier: CA347487190
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553061T>A , CM000664.2:g.85553061T>A GRCh38
NC_000002.11:g.85780184T>A , CM000664.1:g.85780184T>A GRCh37
NC_000002.10:g.85633695T>A NCBI36
NG_011811.2:g.13474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5209A>T
ENST00000482662.2:n.3616A>T
ENST00000685865.1:n.1568A>T
ENST00000687250.1:n.1268A>T
ENST00000687995.1:n.1517A>T
ENST00000688205.1:c.*758A>T ENSP00000509673.1:n.*758A>T
ENST00000688788.1:n.1404A>T
ENST00000689276.1:c.1096A>T ENSP00000510012.1:p.Asn366Tyr
ENST00000689576.1:c.1165A>T ENSP00000508712.1:p.Asn389Tyr
ENST00000690108.1:c.*821A>T ENSP00000510617.1:n.*821A>T
ENST00000690468.1:c.886A>T ENSP00000509078.1:p.Asn296Tyr
ENST00000690595.1:c.490A>T ENSP00000508979.1:p.Asn164Tyr
ENST00000691348.1:c.994A>T ENSP00000509369.1:p.Asn332Tyr
ENST00000691410.1:c.*742A>T ENSP00000508479.1:n.*742A>T
ENST00000693287.1:c.481A>T ENSP00000510264.1:p.Asn161Tyr
ENST00000693681.1:c.478A>T ENSP00000510789.1:p.Asn160Tyr
ENST00000233838.9:c.1165A>T MANE Select ENSP00000233838.3:p.Asn389Tyr
ENST00000233838.8:c.1165A>T ENSP00000233838.3:p.Asn389Tyr
ENST00000430215.7:c.994A>T ENSP00000408045.3:p.Asn332Tyr
ENST00000465637.5:n.179-5057A>T
ENST00000473665.1:n.658A>T
ENST00000482662.1:n.582A>T
NM_000821.5:c.1165A>T NP_000812.2:p.Asn389Tyr
NM_000821.6:c.1165A>T NP_000812.2:p.Asn389Tyr
NM_001142269.2:c.994A>T NP_001135741.1:p.Asn332Tyr
NM_001142269.3:c.994A>T NP_001135741.1:p.Asn332Tyr
XM_005264259.3:c.1165A>T XP_005264316.1:p.Asn389Tyr
XM_011532764.1:c.343A>T XP_011531066.1:p.Asn115Tyr
XM_011532765.1:c.343A>T XP_011531067.1:p.Asn115Tyr
XR_939677.1:n.1230A>T
XM_005264259.5:c.1165A>T XP_005264316.1:p.Asn389Tyr
XM_011532764.3:c.343A>T XP_011531066.1:p.Asn115Tyr
XM_011532765.3:c.343A>T XP_011531067.1:p.Asn115Tyr
XM_017003803.2:c.994A>T XP_016859292.1:p.Asn332Tyr
XR_001738703.2:n.1230A>T
NM_000821.7:c.1165A>T MANE Select NP_000812.2:p.Asn389Tyr
NM_001142269.4:c.994A>T NP_001135741.1:p.Asn332Tyr