Canonical Allele Identifier: CA51736498
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs146560494
gnomAD v4: 2-85553062-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553062G>C , CM000664.2:g.85553062G>C GRCh38
NC_000002.11:g.85780185G>C , CM000664.1:g.85780185G>C GRCh37
NC_000002.10:g.85633696G>C NCBI36
NG_011811.2:g.13473C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5208C>G
ENST00000482662.2:n.3615C>G
ENST00000685865.1:n.1567C>G
ENST00000687250.1:n.1267C>G
ENST00000687995.1:n.1516C>G
ENST00000688205.1:c.*757C>G ENSP00000509673.1:n.*757C>G
ENST00000688788.1:n.1403C>G
ENST00000689276.1:c.1095C>G ENSP00000510012.1:p.Asn365Lys
ENST00000689576.1:c.1164C>G ENSP00000508712.1:p.Asn388Lys
ENST00000690108.1:c.*820C>G ENSP00000510617.1:n.*820C>G
ENST00000690468.1:c.885C>G ENSP00000509078.1:p.Asn295Lys
ENST00000690595.1:c.489C>G ENSP00000508979.1:p.Asn163Lys
ENST00000691348.1:c.993C>G ENSP00000509369.1:p.Asn331Lys
ENST00000691410.1:c.*741C>G ENSP00000508479.1:n.*741C>G
ENST00000693287.1:c.480C>G ENSP00000510264.1:p.Asn160Lys
ENST00000693681.1:c.477C>G ENSP00000510789.1:p.Asn159Lys
ENST00000233838.9:c.1164C>G MANE Select ENSP00000233838.3:p.Asn388Lys
ENST00000233838.8:c.1164C>G ENSP00000233838.3:p.Asn388Lys
ENST00000430215.7:c.993C>G ENSP00000408045.3:p.Asn331Lys
ENST00000465637.5:n.179-5058C>G
ENST00000473665.1:n.657C>G
ENST00000482662.1:n.581C>G
NM_000821.5:c.1164C>G NP_000812.2:p.Asn388Lys
NM_000821.6:c.1164C>G NP_000812.2:p.Asn388Lys
NM_001142269.2:c.993C>G NP_001135741.1:p.Asn331Lys
NM_001142269.3:c.993C>G NP_001135741.1:p.Asn331Lys
XM_005264259.3:c.1164C>G XP_005264316.1:p.Asn388Lys
XM_011532764.1:c.342C>G XP_011531066.1:p.Asn114Lys
XM_011532765.1:c.342C>G XP_011531067.1:p.Asn114Lys
XR_939677.1:n.1229C>G
XM_005264259.5:c.1164C>G XP_005264316.1:p.Asn388Lys
XM_011532764.3:c.342C>G XP_011531066.1:p.Asn114Lys
XM_011532765.3:c.342C>G XP_011531067.1:p.Asn114Lys
XM_017003803.2:c.993C>G XP_016859292.1:p.Asn331Lys
XR_001738703.2:n.1229C>G
NM_000821.7:c.1164C>G MANE Select NP_000812.2:p.Asn388Lys
NM_001142269.4:c.993C>G NP_001135741.1:p.Asn331Lys