Canonical Allele Identifier: CA347484874
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551880G>T , CM000664.2:g.85551880G>T GRCh38
NC_000002.11:g.85779003G>T , CM000664.1:g.85779003G>T GRCh37
NC_000002.10:g.85632514G>T NCBI36
NG_011811.2:g.14655C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6019C>A
ENST00000482662.2:n.4426C>A
ENST00000685865.1:n.2378C>A
ENST00000687250.1:n.2078C>A
ENST00000687995.1:n.1893C>A
ENST00000688205.1:c.*1134C>A ENSP00000509673.1:n.*1134C>A
ENST00000688788.1:n.1780C>A
ENST00000689276.1:c.1472C>A ENSP00000510012.1:p.Ala491Asp
ENST00000689576.1:c.*160C>A ENSP00000508712.1:n.*160C>A
ENST00000690108.1:c.*1197C>A ENSP00000510617.1:n.*1197C>A
ENST00000690468.1:c.*93C>A ENSP00000509078.1:n.*93C>A
ENST00000690595.1:c.866C>A ENSP00000508979.1:p.Ala289Asp
ENST00000691348.1:c.*93C>A ENSP00000509369.1:n.*93C>A
ENST00000691410.1:c.*1118C>A ENSP00000508479.1:n.*1118C>A
ENST00000693287.1:c.857C>A ENSP00000510264.1:p.Ala286Asp
ENST00000693681.1:c.854C>A ENSP00000510789.1:p.Ala285Asp
ENST00000233838.9:c.1541C>A MANE Select ENSP00000233838.3:p.Ala514Asp
ENST00000233838.8:c.1541C>A ENSP00000233838.3:p.Ala514Asp
ENST00000430215.7:c.1370C>A ENSP00000408045.3:p.Ala457Asp
ENST00000465637.5:n.179-3876C>A
NM_000821.5:c.1541C>A NP_000812.2:p.Ala514Asp
NM_000821.6:c.1541C>A NP_000812.2:p.Ala514Asp
NM_001142269.2:c.1370C>A NP_001135741.1:p.Ala457Asp
NM_001142269.3:c.1370C>A NP_001135741.1:p.Ala457Asp
XM_005264259.3:c.1541C>A XP_005264316.1:p.Ala514Asp
XM_011532764.1:c.719C>A XP_011531066.1:p.Ala240Asp
XM_011532765.1:c.719C>A XP_011531067.1:p.Ala240Asp
XR_939677.1:n.1454C>A
XM_005264259.5:c.1541C>A XP_005264316.1:p.Ala514Asp
XM_011532764.3:c.719C>A XP_011531066.1:p.Ala240Asp
XM_011532765.3:c.719C>A XP_011531067.1:p.Ala240Asp
XM_017003803.2:c.1370C>A XP_016859292.1:p.Ala457Asp
XR_001738703.2:n.1454C>A
NM_000821.7:c.1541C>A MANE Select NP_000812.2:p.Ala514Asp
NM_001142269.4:c.1370C>A NP_001135741.1:p.Ala457Asp