Canonical Allele Identifier: CA2659857743
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85558895-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85558895T>C , CM000664.2:g.85558895T>C GRCh38
NC_000002.11:g.85786018T>C , CM000664.1:g.85786018T>C GRCh37
NC_000002.10:g.85639529T>C NCBI36
NG_011811.2:g.7640A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.181A>G
ENST00000482662.2:n.411+51A>G
ENST00000496962.2:c.395A>G ENSP00000508856.1:p.Tyr132Cys
ENST00000685865.1:n.487A>G
ENST00000687250.1:n.476+22A>G
ENST00000687995.1:n.436A>G
ENST00000688205.1:c.373+22A>G ENSP00000509673.1:n.373+22A>G
ENST00000688788.1:n.487A>G
ENST00000689276.1:c.344+51A>G ENSP00000510012.1:n.344+51A>G
ENST00000689576.1:c.373+22A>G ENSP00000508712.1:n.373+22A>G
ENST00000690108.1:c.344+51A>G ENSP00000510617.1:n.344+51A>G
ENST00000690468.1:c.173+51A>G ENSP00000509078.1:n.173+51A>G
ENST00000690595.1:c.214+1920A>G ENSP00000508979.1:n.214+1920A>G
ENST00000691348.1:c.202+22A>G ENSP00000509369.1:n.202+22A>G
ENST00000691410.1:c.344+51A>G ENSP00000508479.1:n.344+51A>G
ENST00000693287.1:c.-67+2491A>G ENSP00000510264.1:n.-67+2491A>G
ENST00000693681.1:c.202+22A>G ENSP00000510789.1:n.202+22A>G
ENST00000233838.9:c.373+22A>G MANE Select ENSP00000233838.3:n.373+22A>G
ENST00000233838.8:c.373+22A>G ENSP00000233838.3:n.373+22A>G
ENST00000421496.5:c.173+51A>G ENSP00000400384.1:n.173+51A>G
ENST00000423570.5:c.344+51A>G ENSP00000389426.1:n.344+51A>G
ENST00000428479.3:c.202+22A>G ENSP00000390748.3:n.202+22A>G
ENST00000430215.7:c.202+22A>G ENSP00000408045.3:n.202+22A>G
ENST00000465637.5:n.178+111A>G
ENST00000481541.1:n.289A>G
ENST00000496962.1:n.514A>G
NM_000821.5:c.373+22A>G NP_000812.2:n.373+22A>G
NM_000821.6:c.373+22A>G NP_000812.2:n.373+22A>G
NM_001142269.2:c.202+22A>G NP_001135741.1:n.202+22A>G
NM_001142269.3:c.202+22A>G NP_001135741.1:n.202+22A>G
NM_001311312.1:c.395A>G NP_001298241.1:p.Tyr132Cys
XM_005264259.3:c.373+22A>G XP_005264316.1:n.373+22A>G
XM_011532764.1:c.-286+22A>G XP_011531066.1:n.-286+22A>G
XM_011532765.1:c.-286+22A>G XP_011531067.1:n.-286+22A>G
XR_939677.1:n.438+22A>G
XM_005264259.5:c.373+22A>G XP_005264316.1:n.373+22A>G
XM_011532764.3:c.-286+22A>G XP_011531066.1:n.-286+22A>G
XM_011532765.3:c.-286+22A>G XP_011531067.1:n.-286+22A>G
XM_017003803.2:c.202+22A>G XP_016859292.1:n.202+22A>G
XR_001738703.2:n.438+22A>G
NM_000821.7:c.373+22A>G MANE Select NP_000812.2:n.373+22A>G
NM_001142269.4:c.202+22A>G NP_001135741.1:n.202+22A>G
NM_001311312.2:c.395A>G NP_001298241.1:p.Tyr132Cys