Canonical Allele Identifier: CA214950
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 16199
ClinVar RCV Id: RCV000017583
dbSNP Id: rs121909677

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553491A>G , CM000664.2:g.85553491A>G GRCh38
NC_000002.11:g.85780614A>G , CM000664.1:g.85780614A>G GRCh37
NC_000002.10:g.85634125A>G NCBI36
NG_011811.2:g.13044T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000473665.2:n.4940T>C
ENST00000482662.2:n.3347T>C
ENST00000685865.1:n.1299T>C
ENST00000687250.1:n.999T>C
ENST00000687995.1:n.1248T>C
ENST00000688205.1:c.*489T>C ENSP00000509673.1:n.*489T>C
ENST00000688788.1:n.1135T>C
ENST00000689276.1:c.827T>C ENSP00000510012.1:p.Phe276Ser
ENST00000689576.1:c.896T>C ENSP00000508712.1:p.Phe299Ser
ENST00000690108.1:c.*552T>C ENSP00000510617.1:n.*552T>C
ENST00000690468.1:c.617T>C ENSP00000509078.1:p.Phe206Ser
ENST00000690595.1:c.221T>C ENSP00000508979.1:p.Phe74Ser
ENST00000691348.1:c.725T>C ENSP00000509369.1:p.Phe242Ser
ENST00000691410.1:c.*473T>C ENSP00000508479.1:n.*473T>C
ENST00000693287.1:c.212T>C ENSP00000510264.1:p.Phe71Ser
ENST00000693681.1:c.209T>C ENSP00000510789.1:p.Phe70Ser
ENST00000233838.9:c.896T>C MANE Select ENSP00000233838.3:p.Phe299Ser
ENST00000233838.8:c.896T>C ENSP00000233838.3:p.Phe299Ser
ENST00000430215.7:c.725T>C ENSP00000408045.3:p.Phe242Ser
ENST00000465637.5:n.179-5487T>C
ENST00000473665.1:n.389T>C
ENST00000482662.1:n.313T>C
NM_000821.5:c.896T>C NP_000812.2:p.Phe299Ser
NM_000821.6:c.896T>C NP_000812.2:p.Phe299Ser
NM_001142269.2:c.725T>C NP_001135741.1:p.Phe242Ser
NM_001142269.3:c.725T>C NP_001135741.1:p.Phe242Ser
XM_005264259.3:c.896T>C XP_005264316.1:p.Phe299Ser
XM_011532764.1:c.74T>C XP_011531066.1:p.Phe25Ser
XM_011532765.1:c.74T>C XP_011531067.1:p.Phe25Ser
XR_939677.1:n.961T>C
XM_005264259.5:c.896T>C XP_005264316.1:p.Phe299Ser
XM_011532764.3:c.74T>C XP_011531066.1:p.Phe25Ser
XM_011532765.3:c.74T>C XP_011531067.1:p.Phe25Ser
XM_017003803.2:c.725T>C XP_016859292.1:p.Phe242Ser
XR_001738703.2:n.961T>C
NM_000821.7:c.896T>C MANE Select NP_000812.2:p.Phe299Ser
NM_001142269.4:c.725T>C NP_001135741.1:p.Phe242Ser