Canonical Allele Identifier: CA10616328
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 337257
dbSNP Id: rs886056379

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85550078A>C , CM000664.2:g.85550078A>C GRCh38
NC_000002.11:g.85777201A>C , CM000664.1:g.85777201A>C GRCh37
NC_000002.10:g.85630712A>C NCBI36
NG_011811.2:g.16457T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6611T>G
ENST00000482662.2:n.5018T>G
ENST00000685865.1:n.3171T>G
ENST00000687250.1:n.2664T>G
ENST00000687995.1:n.2485T>G
ENST00000688205.1:c.*1726T>G ENSP00000509673.1:n.*1726T>G
ENST00000688788.1:n.2372T>G
ENST00000689276.1:c.2064T>G ENSP00000510012.1:p.Pro688=
ENST00000689576.1:c.*752T>G ENSP00000508712.1:n.*752T>G
ENST00000690108.1:c.*1789T>G ENSP00000510617.1:n.*1789T>G
ENST00000690468.1:c.*685T>G ENSP00000509078.1:n.*685T>G
ENST00000690595.1:c.1458T>G ENSP00000508979.1:p.Pro486=
ENST00000691348.1:c.*685T>G ENSP00000509369.1:n.*685T>G
ENST00000691410.1:c.*1710T>G ENSP00000508479.1:n.*1710T>G
ENST00000693287.1:c.1449T>G ENSP00000510264.1:p.Pro483=
ENST00000693354.1:n.817T>G
ENST00000693681.1:c.1446T>G ENSP00000510789.1:p.Pro482=
ENST00000233838.9:c.2133T>G MANE Select ENSP00000233838.3:p.Pro711=
ENST00000233838.8:c.2133T>G ENSP00000233838.3:p.Pro711=
ENST00000430215.7:c.1962T>G ENSP00000408045.3:p.Pro654=
ENST00000465637.5:n.179-2074T>G
NM_000821.5:c.2133T>G NP_000812.2:p.Pro711=
NM_000821.6:c.2133T>G NP_000812.2:p.Pro711=
NM_001142269.2:c.1962T>G NP_001135741.1:p.Pro654=
NM_001142269.3:c.1962T>G NP_001135741.1:p.Pro654=
XM_005264259.3:c.2127T>G XP_005264316.1:p.Pro709=
XM_011532764.1:c.1311T>G XP_011531066.1:p.Pro437=
XM_011532765.1:c.1311T>G XP_011531067.1:p.Pro437=
XM_005264259.5:c.2127T>G XP_005264316.1:p.Pro709=
XM_011532764.3:c.1311T>G XP_011531066.1:p.Pro437=
XM_011532765.3:c.1311T>G XP_011531067.1:p.Pro437=
XM_017003803.2:c.1956T>G XP_016859292.1:p.Pro652=
XR_001738703.2:n.2046T>G
NM_000821.7:c.2133T>G MANE Select NP_000812.2:p.Pro711=
NM_001142269.4:c.1962T>G NP_001135741.1:p.Pro654=