Canonical Allele Identifier: CA1741914
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs745749036
gnomAD v2: 2-85780330-T-C
gnomAD v4: 2-85553207-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553207T>C , CM000664.2:g.85553207T>C GRCh38
NC_000002.11:g.85780330T>C , CM000664.1:g.85780330T>C GRCh37
NC_000002.10:g.85633841T>C NCBI36
NG_011811.2:g.13328A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5199+25A>G
ENST00000482662.2:n.3606+25A>G
ENST00000685865.1:n.1558+25A>G
ENST00000687250.1:n.1258+25A>G
ENST00000687995.1:n.1507+25A>G
ENST00000688205.1:c.*748+25A>G ENSP00000509673.1:n.*748+25A>G
ENST00000688788.1:n.1394+25A>G
ENST00000689276.1:c.1086+25A>G ENSP00000510012.1:n.1086+25A>G
ENST00000689576.1:c.1155+25A>G ENSP00000508712.1:n.1155+25A>G
ENST00000690108.1:c.*811+25A>G ENSP00000510617.1:n.*811+25A>G
ENST00000690468.1:c.876+25A>G ENSP00000509078.1:n.876+25A>G
ENST00000690595.1:c.480+25A>G ENSP00000508979.1:n.480+25A>G
ENST00000691348.1:c.984+25A>G ENSP00000509369.1:n.984+25A>G
ENST00000691410.1:c.*732+25A>G ENSP00000508479.1:n.*732+25A>G
ENST00000693287.1:c.471+25A>G ENSP00000510264.1:n.471+25A>G
ENST00000693681.1:c.468+25A>G ENSP00000510789.1:n.468+25A>G
ENST00000233838.9:c.1155+25A>G MANE Select ENSP00000233838.3:n.1155+25A>G
ENST00000233838.8:c.1155+25A>G ENSP00000233838.3:n.1155+25A>G
ENST00000430215.7:c.984+25A>G ENSP00000408045.3:n.984+25A>G
ENST00000465637.5:n.179-5203A>G
ENST00000473665.1:n.648+25A>G
ENST00000482662.1:n.572+25A>G
NM_000821.5:c.1155+25A>G NP_000812.2:n.1155+25A>G
NM_000821.6:c.1155+25A>G NP_000812.2:n.1155+25A>G
NM_001142269.2:c.984+25A>G NP_001135741.1:n.984+25A>G
NM_001142269.3:c.984+25A>G NP_001135741.1:n.984+25A>G
XM_005264259.3:c.1155+25A>G XP_005264316.1:n.1155+25A>G
XM_011532764.1:c.333+25A>G XP_011531066.1:n.333+25A>G
XM_011532765.1:c.333+25A>G XP_011531067.1:n.333+25A>G
XR_939677.1:n.1220+25A>G
XM_005264259.5:c.1155+25A>G XP_005264316.1:n.1155+25A>G
XM_011532764.3:c.333+25A>G XP_011531066.1:n.333+25A>G
XM_011532765.3:c.333+25A>G XP_011531067.1:n.333+25A>G
XM_017003803.2:c.984+25A>G XP_016859292.1:n.984+25A>G
XR_001738703.2:n.1220+25A>G
NM_000821.7:c.1155+25A>G MANE Select NP_000812.2:n.1155+25A>G
NM_001142269.4:c.984+25A>G NP_001135741.1:n.984+25A>G