Canonical Allele Identifier: CA1266824916
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551896G= , CM000664.2:g.85551896G= GRCh38
NC_000002.11:g.85779019G= , CM000664.1:g.85779019G= GRCh37
NC_000002.10:g.85632530G= NCBI36
NG_011811.2:g.14639C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6003C=
ENST00000482662.2:n.4410C=
ENST00000685865.1:n.2362C=
ENST00000687250.1:n.2062C=
ENST00000687995.1:n.1877C=
ENST00000688205.1:c.*1118C= ENSP00000509673.1:n.*1118C=
ENST00000688788.1:n.1764C=
ENST00000689276.1:c.1456C= ENSP00000510012.1:p.Leu486=
ENST00000689576.1:c.*144C= ENSP00000508712.1:n.*144C=
ENST00000690108.1:c.*1181C= ENSP00000510617.1:n.*1181C=
ENST00000690468.1:c.*77C= ENSP00000509078.1:n.*77C=
ENST00000690595.1:c.850C= ENSP00000508979.1:p.Leu284=
ENST00000691348.1:c.*77C= ENSP00000509369.1:n.*77C=
ENST00000691410.1:c.*1102C= ENSP00000508479.1:n.*1102C=
ENST00000693287.1:c.841C= ENSP00000510264.1:p.Leu281=
ENST00000693681.1:c.838C= ENSP00000510789.1:p.Leu280=
ENST00000233838.9:c.1525C= MANE Select ENSP00000233838.3:p.Leu509=
ENST00000233838.8:c.1525C= ENSP00000233838.3:p.Leu509=
ENST00000430215.7:c.1354C= ENSP00000408045.3:p.Leu452=
ENST00000465637.5:n.179-3892C=
NM_000821.5:c.1525C= NP_000812.2:p.Leu509=
NM_000821.6:c.1525C= NP_000812.2:p.Leu509=
NM_001142269.2:c.1354C= NP_001135741.1:p.Leu452=
NM_001142269.3:c.1354C= NP_001135741.1:p.Leu452=
XM_005264259.3:c.1525C= XP_005264316.1:p.Leu509=
XM_011532764.1:c.703C= XP_011531066.1:p.Leu235=
XM_011532765.1:c.703C= XP_011531067.1:p.Leu235=
XR_939677.1:n.1438C=
XM_005264259.5:c.1525C= XP_005264316.1:p.Leu509=
XM_011532764.3:c.703C= XP_011531066.1:p.Leu235=
XM_011532765.3:c.703C= XP_011531067.1:p.Leu235=
XM_017003803.2:c.1354C= XP_016859292.1:p.Leu452=
XR_001738703.2:n.1438C=
NM_000821.7:c.1525C= MANE Select NP_000812.2:p.Leu509=
NM_001142269.4:c.1354C= NP_001135741.1:p.Leu452=