Canonical Allele Identifier: CA347484797
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85551848-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551848T>A , CM000664.2:g.85551848T>A GRCh38
NC_000002.11:g.85778971T>A , CM000664.1:g.85778971T>A GRCh37
NC_000002.10:g.85632482T>A NCBI36
NG_011811.2:g.14687A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6051A>T
ENST00000482662.2:n.4458A>T
ENST00000685865.1:n.2410A>T
ENST00000687250.1:n.2110A>T
ENST00000687995.1:n.1925A>T
ENST00000688205.1:c.*1166A>T ENSP00000509673.1:n.*1166A>T
ENST00000688788.1:n.1812A>T
ENST00000689276.1:c.1504A>T ENSP00000510012.1:p.Asn502Tyr
ENST00000689576.1:c.*192A>T ENSP00000508712.1:n.*192A>T
ENST00000690108.1:c.*1229A>T ENSP00000510617.1:n.*1229A>T
ENST00000690468.1:c.*125A>T ENSP00000509078.1:n.*125A>T
ENST00000690595.1:c.898A>T ENSP00000508979.1:p.Asn300Tyr
ENST00000691348.1:c.*125A>T ENSP00000509369.1:n.*125A>T
ENST00000691410.1:c.*1150A>T ENSP00000508479.1:n.*1150A>T
ENST00000693287.1:c.889A>T ENSP00000510264.1:p.Asn297Tyr
ENST00000693681.1:c.886A>T ENSP00000510789.1:p.Asn296Tyr
ENST00000233838.9:c.1573A>T MANE Select ENSP00000233838.3:p.Asn525Tyr
ENST00000233838.8:c.1573A>T ENSP00000233838.3:p.Asn525Tyr
ENST00000430215.7:c.1402A>T ENSP00000408045.3:p.Asn468Tyr
ENST00000465637.5:n.179-3844A>T
NM_000821.5:c.1573A>T NP_000812.2:p.Asn525Tyr
NM_000821.6:c.1573A>T NP_000812.2:p.Asn525Tyr
NM_001142269.2:c.1402A>T NP_001135741.1:p.Asn468Tyr
NM_001142269.3:c.1402A>T NP_001135741.1:p.Asn468Tyr
XM_005264259.3:c.1573A>T XP_005264316.1:p.Asn525Tyr
XM_011532764.1:c.751A>T XP_011531066.1:p.Asn251Tyr
XM_011532765.1:c.751A>T XP_011531067.1:p.Asn251Tyr
XR_939677.1:n.1486A>T
XM_005264259.5:c.1573A>T XP_005264316.1:p.Asn525Tyr
XM_011532764.3:c.751A>T XP_011531066.1:p.Asn251Tyr
XM_011532765.3:c.751A>T XP_011531067.1:p.Asn251Tyr
XM_017003803.2:c.1402A>T XP_016859292.1:p.Asn468Tyr
XR_001738703.2:n.1486A>T
NM_000821.7:c.1573A>T MANE Select NP_000812.2:p.Asn525Tyr
NM_001142269.4:c.1402A>T NP_001135741.1:p.Asn468Tyr