Canonical Allele Identifier: CA347486883
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85552986T>C , CM000664.2:g.85552986T>C GRCh38
NC_000002.11:g.85780109T>C , CM000664.1:g.85780109T>C GRCh37
NC_000002.10:g.85633620T>C NCBI36
NG_011811.2:g.13549A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5284A>G
ENST00000482662.2:n.3691A>G
ENST00000685865.1:n.1643A>G
ENST00000687250.1:n.1343A>G
ENST00000687995.1:n.1592A>G
ENST00000688205.1:c.*833A>G ENSP00000509673.1:n.*833A>G
ENST00000688788.1:n.1479A>G
ENST00000689276.1:c.1171A>G ENSP00000510012.1:p.Thr391Ala
ENST00000689576.1:c.1240A>G ENSP00000508712.1:p.Thr414Ala
ENST00000690108.1:c.*896A>G ENSP00000510617.1:n.*896A>G
ENST00000690468.1:c.961A>G ENSP00000509078.1:p.Thr321Ala
ENST00000690595.1:c.565A>G ENSP00000508979.1:p.Thr189Ala
ENST00000691348.1:c.1069A>G ENSP00000509369.1:p.Thr357Ala
ENST00000691410.1:c.*817A>G ENSP00000508479.1:n.*817A>G
ENST00000693287.1:c.556A>G ENSP00000510264.1:p.Thr186Ala
ENST00000693681.1:c.553A>G ENSP00000510789.1:p.Thr185Ala
ENST00000233838.9:c.1240A>G MANE Select ENSP00000233838.3:p.Thr414Ala
ENST00000233838.8:c.1240A>G ENSP00000233838.3:p.Thr414Ala
ENST00000430215.7:c.1069A>G ENSP00000408045.3:p.Thr357Ala
ENST00000465637.5:n.179-4982A>G
ENST00000473665.1:n.733A>G
ENST00000482662.1:n.657A>G
NM_000821.5:c.1240A>G NP_000812.2:p.Thr414Ala
NM_000821.6:c.1240A>G NP_000812.2:p.Thr414Ala
NM_001142269.2:c.1069A>G NP_001135741.1:p.Thr357Ala
NM_001142269.3:c.1069A>G NP_001135741.1:p.Thr357Ala
XM_005264259.3:c.1240A>G XP_005264316.1:p.Thr414Ala
XM_011532764.1:c.418A>G XP_011531066.1:p.Thr140Ala
XM_011532765.1:c.418A>G XP_011531067.1:p.Thr140Ala
XR_939677.1:n.1305A>G
XM_005264259.5:c.1240A>G XP_005264316.1:p.Thr414Ala
XM_011532764.3:c.418A>G XP_011531066.1:p.Thr140Ala
XM_011532765.3:c.418A>G XP_011531067.1:p.Thr140Ala
XM_017003803.2:c.1069A>G XP_016859292.1:p.Thr357Ala
XR_001738703.2:n.1305A>G
NM_000821.7:c.1240A>G MANE Select NP_000812.2:p.Thr414Ala
NM_001142269.4:c.1069A>G NP_001135741.1:p.Thr357Ala