Canonical Allele Identifier: CA347485028
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551953G>A , CM000664.2:g.85551953G>A GRCh38
NC_000002.11:g.85779076G>A , CM000664.1:g.85779076G>A GRCh37
NC_000002.10:g.85632587G>A NCBI36
NG_011811.2:g.14582C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5946C>T
ENST00000482662.2:n.4353C>T
ENST00000685865.1:n.2305C>T
ENST00000687250.1:n.2005C>T
ENST00000687995.1:n.1820C>T
ENST00000688205.1:c.*1061C>T ENSP00000509673.1:n.*1061C>T
ENST00000688788.1:n.1707C>T
ENST00000689276.1:c.1399C>T ENSP00000510012.1:p.Gln467Ter
ENST00000689576.1:c.*87C>T ENSP00000508712.1:n.*87C>T
ENST00000690108.1:c.*1124C>T ENSP00000510617.1:n.*1124C>T
ENST00000690468.1:c.*20C>T ENSP00000509078.1:n.*20C>T
ENST00000690595.1:c.793C>T ENSP00000508979.1:p.Gln265Ter
ENST00000691348.1:c.*20C>T ENSP00000509369.1:n.*20C>T
ENST00000691410.1:c.*1045C>T ENSP00000508479.1:n.*1045C>T
ENST00000693287.1:c.784C>T ENSP00000510264.1:p.Gln262Ter
ENST00000693681.1:c.781C>T ENSP00000510789.1:p.Gln261Ter
ENST00000233838.9:c.1468C>T MANE Select ENSP00000233838.3:p.Gln490Ter
ENST00000233838.8:c.1468C>T ENSP00000233838.3:p.Gln490Ter
ENST00000430215.7:c.1297C>T ENSP00000408045.3:p.Gln433Ter
ENST00000465637.5:n.179-3949C>T
NM_000821.5:c.1468C>T NP_000812.2:p.Gln490Ter
NM_000821.6:c.1468C>T NP_000812.2:p.Gln490Ter
NM_001142269.2:c.1297C>T NP_001135741.1:p.Gln433Ter
NM_001142269.3:c.1297C>T NP_001135741.1:p.Gln433Ter
XM_005264259.3:c.1468C>T XP_005264316.1:p.Gln490Ter
XM_011532764.1:c.646C>T XP_011531066.1:p.Gln216Ter
XM_011532765.1:c.646C>T XP_011531067.1:p.Gln216Ter
XR_939677.1:n.1381C>T
XM_005264259.5:c.1468C>T XP_005264316.1:p.Gln490Ter
XM_011532764.3:c.646C>T XP_011531066.1:p.Gln216Ter
XM_011532765.3:c.646C>T XP_011531067.1:p.Gln216Ter
XM_017003803.2:c.1297C>T XP_016859292.1:p.Gln433Ter
XR_001738703.2:n.1381C>T
NM_000821.7:c.1468C>T MANE Select NP_000812.2:p.Gln490Ter
NM_001142269.4:c.1297C>T NP_001135741.1:p.Gln433Ter