Canonical Allele Identifier: CA347492363
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1309849861
gnomAD v3: 2-85559030-G-T
gnomAD v4: 2-85559030-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85559030G>T , CM000664.2:g.85559030G>T GRCh38
NC_000002.11:g.85786153G>T , CM000664.1:g.85786153G>T GRCh37
NC_000002.10:g.85639664G>T NCBI36
NG_011811.2:g.7505C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.46C>A
ENST00000482662.2:n.327C>A
ENST00000496962.2:c.260C>A ENSP00000508856.1:p.Ser87Tyr
ENST00000685865.1:n.352C>A
ENST00000687250.1:n.363C>A
ENST00000687995.1:n.301C>A
ENST00000688205.1:c.260C>A ENSP00000509673.1:p.Ser87Tyr
ENST00000688788.1:n.352C>A
ENST00000689276.1:c.260C>A ENSP00000510012.1:p.Ser87Tyr
ENST00000689576.1:c.260C>A ENSP00000508712.1:p.Ser87Tyr
ENST00000690108.1:c.260C>A ENSP00000510617.1:p.Ser87Tyr
ENST00000690468.1:c.89C>A ENSP00000509078.1:p.Ser30Tyr
ENST00000690595.1:c.214+1785C>A ENSP00000508979.1:n.214+1785C>A
ENST00000691348.1:c.89C>A ENSP00000509369.1:p.Ser30Tyr
ENST00000691410.1:c.260C>A ENSP00000508479.1:p.Ser87Tyr
ENST00000693287.1:c.-67+2356C>A ENSP00000510264.1:n.-67+2356C>A
ENST00000693681.1:c.89C>A ENSP00000510789.1:p.Ser30Tyr
ENST00000233838.9:c.260C>A MANE Select ENSP00000233838.3:p.Ser87Tyr
ENST00000233838.8:c.260C>A ENSP00000233838.3:p.Ser87Tyr
ENST00000421496.5:c.89C>A ENSP00000400384.1:p.Ser30Tyr
ENST00000423570.5:c.260C>A ENSP00000389426.1:p.Ser87Tyr
ENST00000428479.3:c.89C>A ENSP00000390748.3:p.Ser30Tyr
ENST00000430215.7:c.89C>A ENSP00000408045.3:p.Ser30Tyr
ENST00000465637.5:n.154C>A
ENST00000481541.1:n.154C>A
ENST00000496962.1:n.379C>A
NM_000821.5:c.260C>A NP_000812.2:p.Ser87Tyr
NM_000821.6:c.260C>A NP_000812.2:p.Ser87Tyr
NM_001142269.2:c.89C>A NP_001135741.1:p.Ser30Tyr
NM_001142269.3:c.89C>A NP_001135741.1:p.Ser30Tyr
NM_001311312.1:c.260C>A NP_001298241.1:p.Ser87Tyr
XM_005264259.3:c.260C>A XP_005264316.1:p.Ser87Tyr
XM_011532764.1:c.-399C>A XP_011531066.1:n.-399C>A
XM_011532765.1:c.-399C>A XP_011531067.1:n.-399C>A
XR_939677.1:n.325C>A
XM_005264259.5:c.260C>A XP_005264316.1:p.Ser87Tyr
XM_011532764.3:c.-399C>A XP_011531066.1:n.-399C>A
XM_011532765.3:c.-399C>A XP_011531067.1:n.-399C>A
XM_017003803.2:c.89C>A XP_016859292.1:p.Ser30Tyr
XR_001738703.2:n.325C>A
NM_000821.7:c.260C>A MANE Select NP_000812.2:p.Ser87Tyr
NM_001142269.4:c.89C>A NP_001135741.1:p.Ser30Tyr
NM_001311312.2:c.260C>A NP_001298241.1:p.Ser87Tyr