Canonical Allele Identifier: CA347487210
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85553066-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553066T>C , CM000664.2:g.85553066T>C GRCh38
NC_000002.11:g.85780189T>C , CM000664.1:g.85780189T>C GRCh37
NC_000002.10:g.85633700T>C NCBI36
NG_011811.2:g.13469A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5204A>G
ENST00000482662.2:n.3611A>G
ENST00000685865.1:n.1563A>G
ENST00000687250.1:n.1263A>G
ENST00000687995.1:n.1512A>G
ENST00000688205.1:c.*753A>G ENSP00000509673.1:n.*753A>G
ENST00000688788.1:n.1399A>G
ENST00000689276.1:c.1091A>G ENSP00000510012.1:p.Tyr364Cys
ENST00000689576.1:c.1160A>G ENSP00000508712.1:p.Tyr387Cys
ENST00000690108.1:c.*816A>G ENSP00000510617.1:n.*816A>G
ENST00000690468.1:c.881A>G ENSP00000509078.1:p.Tyr294Cys
ENST00000690595.1:c.485A>G ENSP00000508979.1:p.Tyr162Cys
ENST00000691348.1:c.989A>G ENSP00000509369.1:p.Tyr330Cys
ENST00000691410.1:c.*737A>G ENSP00000508479.1:n.*737A>G
ENST00000693287.1:c.476A>G ENSP00000510264.1:p.Tyr159Cys
ENST00000693681.1:c.473A>G ENSP00000510789.1:p.Tyr158Cys
ENST00000233838.9:c.1160A>G MANE Select ENSP00000233838.3:p.Tyr387Cys
ENST00000233838.8:c.1160A>G ENSP00000233838.3:p.Tyr387Cys
ENST00000430215.7:c.989A>G ENSP00000408045.3:p.Tyr330Cys
ENST00000465637.5:n.179-5062A>G
ENST00000473665.1:n.653A>G
ENST00000482662.1:n.577A>G
NM_000821.5:c.1160A>G NP_000812.2:p.Tyr387Cys
NM_000821.6:c.1160A>G NP_000812.2:p.Tyr387Cys
NM_001142269.2:c.989A>G NP_001135741.1:p.Tyr330Cys
NM_001142269.3:c.989A>G NP_001135741.1:p.Tyr330Cys
XM_005264259.3:c.1160A>G XP_005264316.1:p.Tyr387Cys
XM_011532764.1:c.338A>G XP_011531066.1:p.Tyr113Cys
XM_011532765.1:c.338A>G XP_011531067.1:p.Tyr113Cys
XR_939677.1:n.1225A>G
XM_005264259.5:c.1160A>G XP_005264316.1:p.Tyr387Cys
XM_011532764.3:c.338A>G XP_011531066.1:p.Tyr113Cys
XM_011532765.3:c.338A>G XP_011531067.1:p.Tyr113Cys
XM_017003803.2:c.989A>G XP_016859292.1:p.Tyr330Cys
XR_001738703.2:n.1225A>G
NM_000821.7:c.1160A>G MANE Select NP_000812.2:p.Tyr387Cys
NM_001142269.4:c.989A>G NP_001135741.1:p.Tyr330Cys