Canonical Allele Identifier: CA2659857699
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85558818-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85558818G>T , CM000664.2:g.85558818G>T GRCh38
NC_000002.11:g.85785941G>T , CM000664.1:g.85785941G>T GRCh37
NC_000002.10:g.85639452G>T NCBI36
NG_011811.2:g.7717C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.258C>A
ENST00000482662.2:n.411+128C>A
ENST00000496962.2:c.*73C>A ENSP00000508856.1:n.*73C>A
ENST00000685865.1:n.564C>A
ENST00000687250.1:n.476+99C>A
ENST00000687995.1:n.513C>A
ENST00000688205.1:c.373+99C>A ENSP00000509673.1:n.373+99C>A
ENST00000688788.1:n.564C>A
ENST00000689276.1:c.344+128C>A ENSP00000510012.1:n.344+128C>A
ENST00000689576.1:c.373+99C>A ENSP00000508712.1:n.373+99C>A
ENST00000690108.1:c.344+128C>A ENSP00000510617.1:n.344+128C>A
ENST00000690468.1:c.173+128C>A ENSP00000509078.1:n.173+128C>A
ENST00000690595.1:c.214+1997C>A ENSP00000508979.1:n.214+1997C>A
ENST00000691348.1:c.202+99C>A ENSP00000509369.1:n.202+99C>A
ENST00000691410.1:c.344+128C>A ENSP00000508479.1:n.344+128C>A
ENST00000693287.1:c.-67+2568C>A ENSP00000510264.1:n.-67+2568C>A
ENST00000693681.1:c.202+99C>A ENSP00000510789.1:n.202+99C>A
ENST00000233838.9:c.373+99C>A MANE Select ENSP00000233838.3:n.373+99C>A
ENST00000233838.8:c.373+99C>A ENSP00000233838.3:n.373+99C>A
ENST00000421496.5:c.173+128C>A ENSP00000400384.1:n.173+128C>A
ENST00000423570.5:c.344+128C>A ENSP00000389426.1:n.344+128C>A
ENST00000428479.3:c.202+99C>A ENSP00000390748.3:n.202+99C>A
ENST00000430215.7:c.202+99C>A ENSP00000408045.3:n.202+99C>A
ENST00000465637.5:n.178+188C>A
ENST00000481541.1:n.366C>A
ENST00000496962.1:n.591C>A
NM_000821.5:c.373+99C>A NP_000812.2:n.373+99C>A
NM_000821.6:c.373+99C>A NP_000812.2:n.373+99C>A
NM_001142269.2:c.202+99C>A NP_001135741.1:n.202+99C>A
NM_001142269.3:c.202+99C>A NP_001135741.1:n.202+99C>A
NM_001311312.1:c.*73C>A NP_001298241.1:n.*73C>A
XM_005264259.3:c.373+99C>A XP_005264316.1:n.373+99C>A
XM_011532764.1:c.-286+99C>A XP_011531066.1:n.-286+99C>A
XM_011532765.1:c.-286+99C>A XP_011531067.1:n.-286+99C>A
XR_939677.1:n.438+99C>A
XM_005264259.5:c.373+99C>A XP_005264316.1:n.373+99C>A
XM_011532764.3:c.-286+99C>A XP_011531066.1:n.-286+99C>A
XM_011532765.3:c.-286+99C>A XP_011531067.1:n.-286+99C>A
XM_017003803.2:c.202+99C>A XP_016859292.1:n.202+99C>A
XR_001738703.2:n.438+99C>A
NM_000821.7:c.373+99C>A MANE Select NP_000812.2:n.373+99C>A
NM_001142269.4:c.202+99C>A NP_001135741.1:n.202+99C>A
NM_001311312.2:c.*73C>A NP_001298241.1:n.*73C>A