Canonical Allele Identifier: CA347484804
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85551850-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551850T>G , CM000664.2:g.85551850T>G GRCh38
NC_000002.11:g.85778973T>G , CM000664.1:g.85778973T>G GRCh37
NC_000002.10:g.85632484T>G NCBI36
NG_011811.2:g.14685A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6049A>C
ENST00000482662.2:n.4456A>C
ENST00000685865.1:n.2408A>C
ENST00000687250.1:n.2108A>C
ENST00000687995.1:n.1923A>C
ENST00000688205.1:c.*1164A>C ENSP00000509673.1:n.*1164A>C
ENST00000688788.1:n.1810A>C
ENST00000689276.1:c.1502A>C ENSP00000510012.1:p.Asp501Ala
ENST00000689576.1:c.*190A>C ENSP00000508712.1:n.*190A>C
ENST00000690108.1:c.*1227A>C ENSP00000510617.1:n.*1227A>C
ENST00000690468.1:c.*123A>C ENSP00000509078.1:n.*123A>C
ENST00000690595.1:c.896A>C ENSP00000508979.1:p.Asp299Ala
ENST00000691348.1:c.*123A>C ENSP00000509369.1:n.*123A>C
ENST00000691410.1:c.*1148A>C ENSP00000508479.1:n.*1148A>C
ENST00000693287.1:c.887A>C ENSP00000510264.1:p.Asp296Ala
ENST00000693681.1:c.884A>C ENSP00000510789.1:p.Asp295Ala
ENST00000233838.9:c.1571A>C MANE Select ENSP00000233838.3:p.Asp524Ala
ENST00000233838.8:c.1571A>C ENSP00000233838.3:p.Asp524Ala
ENST00000430215.7:c.1400A>C ENSP00000408045.3:p.Asp467Ala
ENST00000465637.5:n.179-3846A>C
NM_000821.5:c.1571A>C NP_000812.2:p.Asp524Ala
NM_000821.6:c.1571A>C NP_000812.2:p.Asp524Ala
NM_001142269.2:c.1400A>C NP_001135741.1:p.Asp467Ala
NM_001142269.3:c.1400A>C NP_001135741.1:p.Asp467Ala
XM_005264259.3:c.1571A>C XP_005264316.1:p.Asp524Ala
XM_011532764.1:c.749A>C XP_011531066.1:p.Asp250Ala
XM_011532765.1:c.749A>C XP_011531067.1:p.Asp250Ala
XR_939677.1:n.1484A>C
XM_005264259.5:c.1571A>C XP_005264316.1:p.Asp524Ala
XM_011532764.3:c.749A>C XP_011531066.1:p.Asp250Ala
XM_011532765.3:c.749A>C XP_011531067.1:p.Asp250Ala
XM_017003803.2:c.1400A>C XP_016859292.1:p.Asp467Ala
XR_001738703.2:n.1484A>C
NM_000821.7:c.1571A>C MANE Select NP_000812.2:p.Asp524Ala
NM_001142269.4:c.1400A>C NP_001135741.1:p.Asp467Ala