Canonical Allele Identifier: CA347485050
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551962C>T , CM000664.2:g.85551962C>T GRCh38
NC_000002.11:g.85779085C>T , CM000664.1:g.85779085C>T GRCh37
NC_000002.10:g.85632596C>T NCBI36
NG_011811.2:g.14573G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5937G>A
ENST00000482662.2:n.4344G>A
ENST00000685865.1:n.2296G>A
ENST00000687250.1:n.1996G>A
ENST00000687995.1:n.1811G>A
ENST00000688205.1:c.*1052G>A ENSP00000509673.1:n.*1052G>A
ENST00000688788.1:n.1698G>A
ENST00000689276.1:c.1390G>A ENSP00000510012.1:p.Asp464Asn
ENST00000689576.1:c.*78G>A ENSP00000508712.1:n.*78G>A
ENST00000690108.1:c.*1115G>A ENSP00000510617.1:n.*1115G>A
ENST00000690468.1:c.*11G>A ENSP00000509078.1:n.*11G>A
ENST00000690595.1:c.784G>A ENSP00000508979.1:p.Asp262Asn
ENST00000691348.1:c.*11G>A ENSP00000509369.1:n.*11G>A
ENST00000691410.1:c.*1036G>A ENSP00000508479.1:n.*1036G>A
ENST00000693287.1:c.775G>A ENSP00000510264.1:p.Asp259Asn
ENST00000693681.1:c.772G>A ENSP00000510789.1:p.Asp258Asn
ENST00000233838.9:c.1459G>A MANE Select ENSP00000233838.3:p.Asp487Asn
ENST00000233838.8:c.1459G>A ENSP00000233838.3:p.Asp487Asn
ENST00000430215.7:c.1288G>A ENSP00000408045.3:p.Asp430Asn
ENST00000465637.5:n.179-3958G>A
NM_000821.5:c.1459G>A NP_000812.2:p.Asp487Asn
NM_000821.6:c.1459G>A NP_000812.2:p.Asp487Asn
NM_001142269.2:c.1288G>A NP_001135741.1:p.Asp430Asn
NM_001142269.3:c.1288G>A NP_001135741.1:p.Asp430Asn
XM_005264259.3:c.1459G>A XP_005264316.1:p.Asp487Asn
XM_011532764.1:c.637G>A XP_011531066.1:p.Asp213Asn
XM_011532765.1:c.637G>A XP_011531067.1:p.Asp213Asn
XR_939677.1:n.1372G>A
XM_005264259.5:c.1459G>A XP_005264316.1:p.Asp487Asn
XM_011532764.3:c.637G>A XP_011531066.1:p.Asp213Asn
XM_011532765.3:c.637G>A XP_011531067.1:p.Asp213Asn
XM_017003803.2:c.1288G>A XP_016859292.1:p.Asp430Asn
XR_001738703.2:n.1372G>A
NM_000821.7:c.1459G>A MANE Select NP_000812.2:p.Asp487Asn
NM_001142269.4:c.1288G>A NP_001135741.1:p.Asp430Asn