Canonical Allele Identifier: CA347487198
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553063T>A , CM000664.2:g.85553063T>A GRCh38
NC_000002.11:g.85780186T>A , CM000664.1:g.85780186T>A GRCh37
NC_000002.10:g.85633697T>A NCBI36
NG_011811.2:g.13472A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5207A>T
ENST00000482662.2:n.3614A>T
ENST00000685865.1:n.1566A>T
ENST00000687250.1:n.1266A>T
ENST00000687995.1:n.1515A>T
ENST00000688205.1:c.*756A>T ENSP00000509673.1:n.*756A>T
ENST00000688788.1:n.1402A>T
ENST00000689276.1:c.1094A>T ENSP00000510012.1:p.Asn365Ile
ENST00000689576.1:c.1163A>T ENSP00000508712.1:p.Asn388Ile
ENST00000690108.1:c.*819A>T ENSP00000510617.1:n.*819A>T
ENST00000690468.1:c.884A>T ENSP00000509078.1:p.Asn295Ile
ENST00000690595.1:c.488A>T ENSP00000508979.1:p.Asn163Ile
ENST00000691348.1:c.992A>T ENSP00000509369.1:p.Asn331Ile
ENST00000691410.1:c.*740A>T ENSP00000508479.1:n.*740A>T
ENST00000693287.1:c.479A>T ENSP00000510264.1:p.Asn160Ile
ENST00000693681.1:c.476A>T ENSP00000510789.1:p.Asn159Ile
ENST00000233838.9:c.1163A>T MANE Select ENSP00000233838.3:p.Asn388Ile
ENST00000233838.8:c.1163A>T ENSP00000233838.3:p.Asn388Ile
ENST00000430215.7:c.992A>T ENSP00000408045.3:p.Asn331Ile
ENST00000465637.5:n.179-5059A>T
ENST00000473665.1:n.656A>T
ENST00000482662.1:n.580A>T
NM_000821.5:c.1163A>T NP_000812.2:p.Asn388Ile
NM_000821.6:c.1163A>T NP_000812.2:p.Asn388Ile
NM_001142269.2:c.992A>T NP_001135741.1:p.Asn331Ile
NM_001142269.3:c.992A>T NP_001135741.1:p.Asn331Ile
XM_005264259.3:c.1163A>T XP_005264316.1:p.Asn388Ile
XM_011532764.1:c.341A>T XP_011531066.1:p.Asn114Ile
XM_011532765.1:c.341A>T XP_011531067.1:p.Asn114Ile
XR_939677.1:n.1228A>T
XM_005264259.5:c.1163A>T XP_005264316.1:p.Asn388Ile
XM_011532764.3:c.341A>T XP_011531066.1:p.Asn114Ile
XM_011532765.3:c.341A>T XP_011531067.1:p.Asn114Ile
XM_017003803.2:c.992A>T XP_016859292.1:p.Asn331Ile
XR_001738703.2:n.1228A>T
NM_000821.7:c.1163A>T MANE Select NP_000812.2:p.Asn388Ile
NM_001142269.4:c.992A>T NP_001135741.1:p.Asn331Ile