Canonical Allele Identifier: CA347487388
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553261A>T , CM000664.2:g.85553261A>T GRCh38
NC_000002.11:g.85780384A>T , CM000664.1:g.85780384A>T GRCh37
NC_000002.10:g.85633895A>T NCBI36
NG_011811.2:g.13274T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5170T>A
ENST00000482662.2:n.3577T>A
ENST00000685865.1:n.1529T>A
ENST00000687250.1:n.1229T>A
ENST00000687995.1:n.1478T>A
ENST00000688205.1:c.*719T>A ENSP00000509673.1:n.*719T>A
ENST00000688788.1:n.1365T>A
ENST00000689276.1:c.1057T>A ENSP00000510012.1:p.Phe353Ile
ENST00000689576.1:c.1126T>A ENSP00000508712.1:p.Phe376Ile
ENST00000690108.1:c.*782T>A ENSP00000510617.1:n.*782T>A
ENST00000690468.1:c.847T>A ENSP00000509078.1:p.Phe283Ile
ENST00000690595.1:c.451T>A ENSP00000508979.1:p.Phe151Ile
ENST00000691348.1:c.955T>A ENSP00000509369.1:p.Phe319Ile
ENST00000691410.1:c.*703T>A ENSP00000508479.1:n.*703T>A
ENST00000693287.1:c.442T>A ENSP00000510264.1:p.Phe148Ile
ENST00000693681.1:c.439T>A ENSP00000510789.1:p.Phe147Ile
ENST00000233838.9:c.1126T>A MANE Select ENSP00000233838.3:p.Phe376Ile
ENST00000233838.8:c.1126T>A ENSP00000233838.3:p.Phe376Ile
ENST00000430215.7:c.955T>A ENSP00000408045.3:p.Phe319Ile
ENST00000465637.5:n.179-5257T>A
ENST00000473665.1:n.619T>A
ENST00000482662.1:n.543T>A
NM_000821.5:c.1126T>A NP_000812.2:p.Phe376Ile
NM_000821.6:c.1126T>A NP_000812.2:p.Phe376Ile
NM_001142269.2:c.955T>A NP_001135741.1:p.Phe319Ile
NM_001142269.3:c.955T>A NP_001135741.1:p.Phe319Ile
XM_005264259.3:c.1126T>A XP_005264316.1:p.Phe376Ile
XM_011532764.1:c.304T>A XP_011531066.1:p.Phe102Ile
XM_011532765.1:c.304T>A XP_011531067.1:p.Phe102Ile
XR_939677.1:n.1191T>A
XM_005264259.5:c.1126T>A XP_005264316.1:p.Phe376Ile
XM_011532764.3:c.304T>A XP_011531066.1:p.Phe102Ile
XM_011532765.3:c.304T>A XP_011531067.1:p.Phe102Ile
XM_017003803.2:c.955T>A XP_016859292.1:p.Phe319Ile
XR_001738703.2:n.1191T>A
NM_000821.7:c.1126T>A MANE Select NP_000812.2:p.Phe376Ile
NM_001142269.4:c.955T>A NP_001135741.1:p.Phe319Ile