Canonical Allele Identifier: CA347484808
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551853A>G , CM000664.2:g.85551853A>G GRCh38
NC_000002.11:g.85778976A>G , CM000664.1:g.85778976A>G GRCh37
NC_000002.10:g.85632487A>G NCBI36
NG_011811.2:g.14682T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6046T>C
ENST00000482662.2:n.4453T>C
ENST00000685865.1:n.2405T>C
ENST00000687250.1:n.2105T>C
ENST00000687995.1:n.1920T>C
ENST00000688205.1:c.*1161T>C ENSP00000509673.1:n.*1161T>C
ENST00000688788.1:n.1807T>C
ENST00000689276.1:c.1499T>C ENSP00000510012.1:p.Leu500Pro
ENST00000689576.1:c.*187T>C ENSP00000508712.1:n.*187T>C
ENST00000690108.1:c.*1224T>C ENSP00000510617.1:n.*1224T>C
ENST00000690468.1:c.*120T>C ENSP00000509078.1:n.*120T>C
ENST00000690595.1:c.893T>C ENSP00000508979.1:p.Leu298Pro
ENST00000691348.1:c.*120T>C ENSP00000509369.1:n.*120T>C
ENST00000691410.1:c.*1145T>C ENSP00000508479.1:n.*1145T>C
ENST00000693287.1:c.884T>C ENSP00000510264.1:p.Leu295Pro
ENST00000693681.1:c.881T>C ENSP00000510789.1:p.Leu294Pro
ENST00000233838.9:c.1568T>C MANE Select ENSP00000233838.3:p.Leu523Pro
ENST00000233838.8:c.1568T>C ENSP00000233838.3:p.Leu523Pro
ENST00000430215.7:c.1397T>C ENSP00000408045.3:p.Leu466Pro
ENST00000465637.5:n.179-3849T>C
NM_000821.5:c.1568T>C NP_000812.2:p.Leu523Pro
NM_000821.6:c.1568T>C NP_000812.2:p.Leu523Pro
NM_001142269.2:c.1397T>C NP_001135741.1:p.Leu466Pro
NM_001142269.3:c.1397T>C NP_001135741.1:p.Leu466Pro
XM_005264259.3:c.1568T>C XP_005264316.1:p.Leu523Pro
XM_011532764.1:c.746T>C XP_011531066.1:p.Leu249Pro
XM_011532765.1:c.746T>C XP_011531067.1:p.Leu249Pro
XR_939677.1:n.1481T>C
XM_005264259.5:c.1568T>C XP_005264316.1:p.Leu523Pro
XM_011532764.3:c.746T>C XP_011531066.1:p.Leu249Pro
XM_011532765.3:c.746T>C XP_011531067.1:p.Leu249Pro
XM_017003803.2:c.1397T>C XP_016859292.1:p.Leu466Pro
XR_001738703.2:n.1481T>C
NM_000821.7:c.1568T>C MANE Select NP_000812.2:p.Leu523Pro
NM_001142269.4:c.1397T>C NP_001135741.1:p.Leu466Pro