Canonical Allele Identifier: CA347484711
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551810A>C , CM000664.2:g.85551810A>C GRCh38
NC_000002.11:g.85778933A>C , CM000664.1:g.85778933A>C GRCh37
NC_000002.10:g.85632444A>C NCBI36
NG_011811.2:g.14725T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6087+2T>G
ENST00000482662.2:n.4494+2T>G
ENST00000685865.1:n.2448T>G
ENST00000687250.1:n.2146+2T>G
ENST00000687995.1:n.1961+2T>G
ENST00000688205.1:c.*1202+2T>G ENSP00000509673.1:n.*1202+2T>G
ENST00000688788.1:n.1848+2T>G
ENST00000689276.1:c.1540+2T>G ENSP00000510012.1:n.1540+2T>G
ENST00000689576.1:c.*228+2T>G ENSP00000508712.1:n.*228+2T>G
ENST00000690108.1:c.*1265+2T>G ENSP00000510617.1:n.*1265+2T>G
ENST00000690468.1:c.*161+2T>G ENSP00000509078.1:n.*161+2T>G
ENST00000690595.1:c.934+2T>G ENSP00000508979.1:n.934+2T>G
ENST00000691348.1:c.*161+2T>G ENSP00000509369.1:n.*161+2T>G
ENST00000691410.1:c.*1186+2T>G ENSP00000508479.1:n.*1186+2T>G
ENST00000693287.1:c.925+2T>G ENSP00000510264.1:n.925+2T>G
ENST00000693681.1:c.922+2T>G ENSP00000510789.1:n.922+2T>G
ENST00000233838.9:c.1609+2T>G MANE Select ENSP00000233838.3:n.1609+2T>G
ENST00000233838.8:c.1609+2T>G ENSP00000233838.3:n.1609+2T>G
ENST00000430215.7:c.1438+2T>G ENSP00000408045.3:n.1438+2T>G
ENST00000465637.5:n.179-3806T>G
NM_000821.5:c.1609+2T>G NP_000812.2:n.1609+2T>G
NM_000821.6:c.1609+2T>G NP_000812.2:n.1609+2T>G
NM_001142269.2:c.1438+2T>G NP_001135741.1:n.1438+2T>G
NM_001142269.3:c.1438+2T>G NP_001135741.1:n.1438+2T>G
XM_005264259.3:c.1609+2T>G XP_005264316.1:n.1609+2T>G
XM_011532764.1:c.787+2T>G XP_011531066.1:n.787+2T>G
XM_011532765.1:c.787+2T>G XP_011531067.1:n.787+2T>G
XR_939677.1:n.1522+2T>G
XM_005264259.5:c.1609+2T>G XP_005264316.1:n.1609+2T>G
XM_011532764.3:c.787+2T>G XP_011531066.1:n.787+2T>G
XM_011532765.3:c.787+2T>G XP_011531067.1:n.787+2T>G
XM_017003803.2:c.1438+2T>G XP_016859292.1:n.1438+2T>G
XR_001738703.2:n.1522+2T>G
NM_000821.7:c.1609+2T>G MANE Select NP_000812.2:n.1609+2T>G
NM_001142269.4:c.1438+2T>G NP_001135741.1:n.1438+2T>G