Canonical Allele Identifier: CA347487272
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553232C>G , CM000664.2:g.85553232C>G GRCh38
NC_000002.11:g.85780355C>G , CM000664.1:g.85780355C>G GRCh37
NC_000002.10:g.85633866C>G NCBI36
NG_011811.2:g.13303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5199G>C
ENST00000482662.2:n.3606G>C
ENST00000685865.1:n.1558G>C
ENST00000687250.1:n.1258G>C
ENST00000687995.1:n.1507G>C
ENST00000688205.1:c.*748G>C ENSP00000509673.1:n.*748G>C
ENST00000688788.1:n.1394G>C
ENST00000689276.1:c.1086G>C ENSP00000510012.1:p.Gln362His
ENST00000689576.1:c.1155G>C ENSP00000508712.1:p.Gln385His
ENST00000690108.1:c.*811G>C ENSP00000510617.1:n.*811G>C
ENST00000690468.1:c.876G>C ENSP00000509078.1:p.Gln292His
ENST00000690595.1:c.480G>C ENSP00000508979.1:p.Gln160His
ENST00000691348.1:c.984G>C ENSP00000509369.1:p.Gln328His
ENST00000691410.1:c.*732G>C ENSP00000508479.1:n.*732G>C
ENST00000693287.1:c.471G>C ENSP00000510264.1:p.Gln157His
ENST00000693681.1:c.468G>C ENSP00000510789.1:p.Gln156His
ENST00000233838.9:c.1155G>C MANE Select ENSP00000233838.3:p.Gln385His
ENST00000233838.8:c.1155G>C ENSP00000233838.3:p.Gln385His
ENST00000430215.7:c.984G>C ENSP00000408045.3:p.Gln328His
ENST00000465637.5:n.179-5228G>C
ENST00000473665.1:n.648G>C
ENST00000482662.1:n.572G>C
NM_000821.5:c.1155G>C NP_000812.2:p.Gln385His
NM_000821.6:c.1155G>C NP_000812.2:p.Gln385His
NM_001142269.2:c.984G>C NP_001135741.1:p.Gln328His
NM_001142269.3:c.984G>C NP_001135741.1:p.Gln328His
XM_005264259.3:c.1155G>C XP_005264316.1:p.Gln385His
XM_011532764.1:c.333G>C XP_011531066.1:p.Gln111His
XM_011532765.1:c.333G>C XP_011531067.1:p.Gln111His
XR_939677.1:n.1220G>C
XM_005264259.5:c.1155G>C XP_005264316.1:p.Gln385His
XM_011532764.3:c.333G>C XP_011531066.1:p.Gln111His
XM_011532765.3:c.333G>C XP_011531067.1:p.Gln111His
XM_017003803.2:c.984G>C XP_016859292.1:p.Gln328His
XR_001738703.2:n.1220G>C
NM_000821.7:c.1155G>C MANE Select NP_000812.2:p.Gln385His
NM_001142269.4:c.984G>C NP_001135741.1:p.Gln328His