Canonical Allele Identifier: CA347487372
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553258G>C , CM000664.2:g.85553258G>C GRCh38
NC_000002.11:g.85780381G>C , CM000664.1:g.85780381G>C GRCh37
NC_000002.10:g.85633892G>C NCBI36
NG_011811.2:g.13277C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5173C>G
ENST00000482662.2:n.3580C>G
ENST00000685865.1:n.1532C>G
ENST00000687250.1:n.1232C>G
ENST00000687995.1:n.1481C>G
ENST00000688205.1:c.*722C>G ENSP00000509673.1:n.*722C>G
ENST00000688788.1:n.1368C>G
ENST00000689276.1:c.1060C>G ENSP00000510012.1:p.Leu354Val
ENST00000689576.1:c.1129C>G ENSP00000508712.1:p.Leu377Val
ENST00000690108.1:c.*785C>G ENSP00000510617.1:n.*785C>G
ENST00000690468.1:c.850C>G ENSP00000509078.1:p.Leu284Val
ENST00000690595.1:c.454C>G ENSP00000508979.1:p.Leu152Val
ENST00000691348.1:c.958C>G ENSP00000509369.1:p.Leu320Val
ENST00000691410.1:c.*706C>G ENSP00000508479.1:n.*706C>G
ENST00000693287.1:c.445C>G ENSP00000510264.1:p.Leu149Val
ENST00000693681.1:c.442C>G ENSP00000510789.1:p.Leu148Val
ENST00000233838.9:c.1129C>G MANE Select ENSP00000233838.3:p.Leu377Val
ENST00000233838.8:c.1129C>G ENSP00000233838.3:p.Leu377Val
ENST00000430215.7:c.958C>G ENSP00000408045.3:p.Leu320Val
ENST00000465637.5:n.179-5254C>G
ENST00000473665.1:n.622C>G
ENST00000482662.1:n.546C>G
NM_000821.5:c.1129C>G NP_000812.2:p.Leu377Val
NM_000821.6:c.1129C>G NP_000812.2:p.Leu377Val
NM_001142269.2:c.958C>G NP_001135741.1:p.Leu320Val
NM_001142269.3:c.958C>G NP_001135741.1:p.Leu320Val
XM_005264259.3:c.1129C>G XP_005264316.1:p.Leu377Val
XM_011532764.1:c.307C>G XP_011531066.1:p.Leu103Val
XM_011532765.1:c.307C>G XP_011531067.1:p.Leu103Val
XR_939677.1:n.1194C>G
XM_005264259.5:c.1129C>G XP_005264316.1:p.Leu377Val
XM_011532764.3:c.307C>G XP_011531066.1:p.Leu103Val
XM_011532765.3:c.307C>G XP_011531067.1:p.Leu103Val
XM_017003803.2:c.958C>G XP_016859292.1:p.Leu320Val
XR_001738703.2:n.1194C>G
NM_000821.7:c.1129C>G MANE Select NP_000812.2:p.Leu377Val
NM_001142269.4:c.958C>G NP_001135741.1:p.Leu320Val