Canonical Allele Identifier: CA2740294630
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551769C>T , CM000664.2:g.85551769C>T GRCh38
NC_000002.11:g.85778892C>T , CM000664.1:g.85778892C>T GRCh37
NC_000002.10:g.85632403C>T NCBI36
NG_011811.2:g.14766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6087+43G>A
ENST00000482662.2:n.4494+43G>A
ENST00000685865.1:n.2489G>A
ENST00000687250.1:n.2146+43G>A
ENST00000687995.1:n.1961+43G>A
ENST00000688205.1:c.*1202+43G>A ENSP00000509673.1:n.*1202+43G>A
ENST00000688788.1:n.1848+43G>A
ENST00000689276.1:c.1540+43G>A ENSP00000510012.1:n.1540+43G>A
ENST00000689576.1:c.*228+43G>A ENSP00000508712.1:n.*228+43G>A
ENST00000690108.1:c.*1265+43G>A ENSP00000510617.1:n.*1265+43G>A
ENST00000690468.1:c.*161+43G>A ENSP00000509078.1:n.*161+43G>A
ENST00000690595.1:c.934+43G>A ENSP00000508979.1:n.934+43G>A
ENST00000691348.1:c.*161+43G>A ENSP00000509369.1:n.*161+43G>A
ENST00000691410.1:c.*1186+43G>A ENSP00000508479.1:n.*1186+43G>A
ENST00000693287.1:c.925+43G>A ENSP00000510264.1:n.925+43G>A
ENST00000693681.1:c.922+43G>A ENSP00000510789.1:n.922+43G>A
ENST00000233838.9:c.1609+43G>A MANE Select ENSP00000233838.3:n.1609+43G>A
ENST00000233838.8:c.1609+43G>A ENSP00000233838.3:n.1609+43G>A
ENST00000430215.7:c.1438+43G>A ENSP00000408045.3:n.1438+43G>A
ENST00000465637.5:n.179-3765G>A
NM_000821.5:c.1609+43G>A NP_000812.2:n.1609+43G>A
NM_000821.6:c.1609+43G>A NP_000812.2:n.1609+43G>A
NM_001142269.2:c.1438+43G>A NP_001135741.1:n.1438+43G>A
NM_001142269.3:c.1438+43G>A NP_001135741.1:n.1438+43G>A
XM_005264259.3:c.1609+43G>A XP_005264316.1:n.1609+43G>A
XM_011532764.1:c.787+43G>A XP_011531066.1:n.787+43G>A
XM_011532765.1:c.787+43G>A XP_011531067.1:n.787+43G>A
XR_939677.1:n.1522+43G>A
XM_005264259.5:c.1609+43G>A XP_005264316.1:n.1609+43G>A
XM_011532764.3:c.787+43G>A XP_011531066.1:n.787+43G>A
XM_011532765.3:c.787+43G>A XP_011531067.1:n.787+43G>A
XM_017003803.2:c.1438+43G>A XP_016859292.1:n.1438+43G>A
XR_001738703.2:n.1522+43G>A
NM_000821.7:c.1609+43G>A MANE Select NP_000812.2:n.1609+43G>A
NM_001142269.4:c.1438+43G>A NP_001135741.1:n.1438+43G>A