Canonical Allele Identifier: CA347485065
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551972G>T , CM000664.2:g.85551972G>T GRCh38
NC_000002.11:g.85779095G>T , CM000664.1:g.85779095G>T GRCh37
NC_000002.10:g.85632606G>T NCBI36
NG_011811.2:g.14563C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5927C>A
ENST00000482662.2:n.4334C>A
ENST00000685865.1:n.2286C>A
ENST00000687250.1:n.1986C>A
ENST00000687995.1:n.1801C>A
ENST00000688205.1:c.*1042C>A ENSP00000509673.1:n.*1042C>A
ENST00000688788.1:n.1688C>A
ENST00000689276.1:c.1380C>A ENSP00000510012.1:p.Asp460Glu
ENST00000689576.1:c.*68C>A ENSP00000508712.1:n.*68C>A
ENST00000690108.1:c.*1105C>A ENSP00000510617.1:n.*1105C>A
ENST00000690468.1:c.*1C>A ENSP00000509078.1:n.*1C>A
ENST00000690595.1:c.774C>A ENSP00000508979.1:p.Asp258Glu
ENST00000691348.1:c.*1C>A ENSP00000509369.1:n.*1C>A
ENST00000691410.1:c.*1026C>A ENSP00000508479.1:n.*1026C>A
ENST00000693287.1:c.765C>A ENSP00000510264.1:p.Asp255Glu
ENST00000693681.1:c.762C>A ENSP00000510789.1:p.Asp254Glu
ENST00000233838.9:c.1449C>A MANE Select ENSP00000233838.3:p.Asp483Glu
ENST00000233838.8:c.1449C>A ENSP00000233838.3:p.Asp483Glu
ENST00000430215.7:c.1278C>A ENSP00000408045.3:p.Asp426Glu
ENST00000465637.5:n.179-3968C>A
NM_000821.5:c.1449C>A NP_000812.2:p.Asp483Glu
NM_000821.6:c.1449C>A NP_000812.2:p.Asp483Glu
NM_001142269.2:c.1278C>A NP_001135741.1:p.Asp426Glu
NM_001142269.3:c.1278C>A NP_001135741.1:p.Asp426Glu
XM_005264259.3:c.1449C>A XP_005264316.1:p.Asp483Glu
XM_011532764.1:c.627C>A XP_011531066.1:p.Asp209Glu
XM_011532765.1:c.627C>A XP_011531067.1:p.Asp209Glu
XR_939677.1:n.1362C>A
XM_005264259.5:c.1449C>A XP_005264316.1:p.Asp483Glu
XM_011532764.3:c.627C>A XP_011531066.1:p.Asp209Glu
XM_011532765.3:c.627C>A XP_011531067.1:p.Asp209Glu
XM_017003803.2:c.1278C>A XP_016859292.1:p.Asp426Glu
XR_001738703.2:n.1362C>A
NM_000821.7:c.1449C>A MANE Select NP_000812.2:p.Asp483Glu
NM_001142269.4:c.1278C>A NP_001135741.1:p.Asp426Glu