Canonical Allele Identifier: CA2659857747
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85558911-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85558911C>T , CM000664.2:g.85558911C>T GRCh38
NC_000002.11:g.85786034C>T , CM000664.1:g.85786034C>T GRCh37
NC_000002.10:g.85639545C>T NCBI36
NG_011811.2:g.7624G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000473665.2:n.165G>A
ENST00000482662.2:n.411+35G>A
ENST00000496962.2:c.379G>A ENSP00000508856.1:p.Gly127Arg
ENST00000685865.1:n.471G>A
ENST00000687250.1:n.476+6G>A
ENST00000687995.1:n.420G>A
ENST00000688205.1:c.373+6G>A ENSP00000509673.1:n.373+6G>A
ENST00000688788.1:n.471G>A
ENST00000689276.1:c.344+35G>A ENSP00000510012.1:n.344+35G>A
ENST00000689576.1:c.373+6G>A ENSP00000508712.1:n.373+6G>A
ENST00000690108.1:c.344+35G>A ENSP00000510617.1:n.344+35G>A
ENST00000690468.1:c.173+35G>A ENSP00000509078.1:n.173+35G>A
ENST00000690595.1:c.214+1904G>A ENSP00000508979.1:n.214+1904G>A
ENST00000691348.1:c.202+6G>A ENSP00000509369.1:n.202+6G>A
ENST00000691410.1:c.344+35G>A ENSP00000508479.1:n.344+35G>A
ENST00000693287.1:c.-67+2475G>A ENSP00000510264.1:n.-67+2475G>A
ENST00000693681.1:c.202+6G>A ENSP00000510789.1:n.202+6G>A
ENST00000233838.9:c.373+6G>A MANE Select ENSP00000233838.3:n.373+6G>A
ENST00000233838.8:c.373+6G>A ENSP00000233838.3:n.373+6G>A
ENST00000421496.5:c.173+35G>A ENSP00000400384.1:n.173+35G>A
ENST00000423570.5:c.344+35G>A ENSP00000389426.1:n.344+35G>A
ENST00000428479.3:c.202+6G>A ENSP00000390748.3:n.202+6G>A
ENST00000430215.7:c.202+6G>A ENSP00000408045.3:n.202+6G>A
ENST00000465637.5:n.178+95G>A
ENST00000481541.1:n.273G>A
ENST00000496962.1:n.498G>A
NM_000821.5:c.373+6G>A NP_000812.2:n.373+6G>A
NM_000821.6:c.373+6G>A NP_000812.2:n.373+6G>A
NM_001142269.2:c.202+6G>A NP_001135741.1:n.202+6G>A
NM_001142269.3:c.202+6G>A NP_001135741.1:n.202+6G>A
NM_001311312.1:c.379G>A NP_001298241.1:p.Gly127Arg
XM_005264259.3:c.373+6G>A XP_005264316.1:n.373+6G>A
XM_011532764.1:c.-286+6G>A XP_011531066.1:n.-286+6G>A
XM_011532765.1:c.-286+6G>A XP_011531067.1:n.-286+6G>A
XR_939677.1:n.438+6G>A
XM_005264259.5:c.373+6G>A XP_005264316.1:n.373+6G>A
XM_011532764.3:c.-286+6G>A XP_011531066.1:n.-286+6G>A
XM_011532765.3:c.-286+6G>A XP_011531067.1:n.-286+6G>A
XM_017003803.2:c.202+6G>A XP_016859292.1:n.202+6G>A
XR_001738703.2:n.438+6G>A
NM_000821.7:c.373+6G>A MANE Select NP_000812.2:n.373+6G>A
NM_001142269.4:c.202+6G>A NP_001135741.1:n.202+6G>A
NM_001311312.2:c.379G>A NP_001298241.1:p.Gly127Arg