Canonical Allele Identifier: CA347485008
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs121909679

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551943C>A , CM000664.2:g.85551943C>A GRCh38
NC_000002.11:g.85779066C>A , CM000664.1:g.85779066C>A GRCh37
NC_000002.10:g.85632577C>A NCBI36
NG_011811.2:g.14592G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5956G>T
ENST00000482662.2:n.4363G>T
ENST00000685865.1:n.2315G>T
ENST00000687250.1:n.2015G>T
ENST00000687995.1:n.1830G>T
ENST00000688205.1:c.*1071G>T ENSP00000509673.1:n.*1071G>T
ENST00000688788.1:n.1717G>T
ENST00000689276.1:c.1409G>T ENSP00000510012.1:p.Trp470Leu
ENST00000689576.1:c.*97G>T ENSP00000508712.1:n.*97G>T
ENST00000690108.1:c.*1134G>T ENSP00000510617.1:n.*1134G>T
ENST00000690468.1:c.*30G>T ENSP00000509078.1:n.*30G>T
ENST00000690595.1:c.803G>T ENSP00000508979.1:p.Trp268Leu
ENST00000691348.1:c.*30G>T ENSP00000509369.1:n.*30G>T
ENST00000691410.1:c.*1055G>T ENSP00000508479.1:n.*1055G>T
ENST00000693287.1:c.794G>T ENSP00000510264.1:p.Trp265Leu
ENST00000693681.1:c.791G>T ENSP00000510789.1:p.Trp264Leu
ENST00000233838.9:c.1478G>T MANE Select ENSP00000233838.3:p.Trp493Leu
ENST00000233838.8:c.1478G>T ENSP00000233838.3:p.Trp493Leu
ENST00000430215.7:c.1307G>T ENSP00000408045.3:p.Trp436Leu
ENST00000465637.5:n.179-3939G>T
NM_000821.5:c.1478G>T NP_000812.2:p.Trp493Leu
NM_000821.6:c.1478G>T NP_000812.2:p.Trp493Leu
NM_001142269.2:c.1307G>T NP_001135741.1:p.Trp436Leu
NM_001142269.3:c.1307G>T NP_001135741.1:p.Trp436Leu
XM_005264259.3:c.1478G>T XP_005264316.1:p.Trp493Leu
XM_011532764.1:c.656G>T XP_011531066.1:p.Trp219Leu
XM_011532765.1:c.656G>T XP_011531067.1:p.Trp219Leu
XR_939677.1:n.1391G>T
XM_005264259.5:c.1478G>T XP_005264316.1:p.Trp493Leu
XM_011532764.3:c.656G>T XP_011531066.1:p.Trp219Leu
XM_011532765.3:c.656G>T XP_011531067.1:p.Trp219Leu
XM_017003803.2:c.1307G>T XP_016859292.1:p.Trp436Leu
XR_001738703.2:n.1391G>T
NM_000821.7:c.1478G>T MANE Select NP_000812.2:p.Trp493Leu
NM_001142269.4:c.1307G>T NP_001135741.1:p.Trp436Leu