Canonical Allele Identifier: CA347484924
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551904A>T , CM000664.2:g.85551904A>T GRCh38
NC_000002.11:g.85779027A>T , CM000664.1:g.85779027A>T GRCh37
NC_000002.10:g.85632538A>T NCBI36
NG_011811.2:g.14631T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5995T>A
ENST00000482662.2:n.4402T>A
ENST00000685865.1:n.2354T>A
ENST00000687250.1:n.2054T>A
ENST00000687995.1:n.1869T>A
ENST00000688205.1:c.*1110T>A ENSP00000509673.1:n.*1110T>A
ENST00000688788.1:n.1756T>A
ENST00000689276.1:c.1448T>A ENSP00000510012.1:p.Leu483Ter
ENST00000689576.1:c.*136T>A ENSP00000508712.1:n.*136T>A
ENST00000690108.1:c.*1173T>A ENSP00000510617.1:n.*1173T>A
ENST00000690468.1:c.*69T>A ENSP00000509078.1:n.*69T>A
ENST00000690595.1:c.842T>A ENSP00000508979.1:p.Leu281Ter
ENST00000691348.1:c.*69T>A ENSP00000509369.1:n.*69T>A
ENST00000691410.1:c.*1094T>A ENSP00000508479.1:n.*1094T>A
ENST00000693287.1:c.833T>A ENSP00000510264.1:p.Leu278Ter
ENST00000693681.1:c.830T>A ENSP00000510789.1:p.Leu277Ter
ENST00000233838.9:c.1517T>A MANE Select ENSP00000233838.3:p.Leu506Ter
ENST00000233838.8:c.1517T>A ENSP00000233838.3:p.Leu506Ter
ENST00000430215.7:c.1346T>A ENSP00000408045.3:p.Leu449Ter
ENST00000465637.5:n.179-3900T>A
NM_000821.5:c.1517T>A NP_000812.2:p.Leu506Ter
NM_000821.6:c.1517T>A NP_000812.2:p.Leu506Ter
NM_001142269.2:c.1346T>A NP_001135741.1:p.Leu449Ter
NM_001142269.3:c.1346T>A NP_001135741.1:p.Leu449Ter
XM_005264259.3:c.1517T>A XP_005264316.1:p.Leu506Ter
XM_011532764.1:c.695T>A XP_011531066.1:p.Leu232Ter
XM_011532765.1:c.695T>A XP_011531067.1:p.Leu232Ter
XR_939677.1:n.1430T>A
XM_005264259.5:c.1517T>A XP_005264316.1:p.Leu506Ter
XM_011532764.3:c.695T>A XP_011531066.1:p.Leu232Ter
XM_011532765.3:c.695T>A XP_011531067.1:p.Leu232Ter
XM_017003803.2:c.1346T>A XP_016859292.1:p.Leu449Ter
XR_001738703.2:n.1430T>A
NM_000821.7:c.1517T>A MANE Select NP_000812.2:p.Leu506Ter
NM_001142269.4:c.1346T>A NP_001135741.1:p.Leu449Ter