Canonical Allele Identifier: CA347487329
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85553246-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553246G>A , CM000664.2:g.85553246G>A GRCh38
NC_000002.11:g.85780369G>A , CM000664.1:g.85780369G>A GRCh37
NC_000002.10:g.85633880G>A NCBI36
NG_011811.2:g.13289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5185C>T
ENST00000482662.2:n.3592C>T
ENST00000685865.1:n.1544C>T
ENST00000687250.1:n.1244C>T
ENST00000687995.1:n.1493C>T
ENST00000688205.1:c.*734C>T ENSP00000509673.1:n.*734C>T
ENST00000688788.1:n.1380C>T
ENST00000689276.1:c.1072C>T ENSP00000510012.1:p.His358Tyr
ENST00000689576.1:c.1141C>T ENSP00000508712.1:p.His381Tyr
ENST00000690108.1:c.*797C>T ENSP00000510617.1:n.*797C>T
ENST00000690468.1:c.862C>T ENSP00000509078.1:p.His288Tyr
ENST00000690595.1:c.466C>T ENSP00000508979.1:p.His156Tyr
ENST00000691348.1:c.970C>T ENSP00000509369.1:p.His324Tyr
ENST00000691410.1:c.*718C>T ENSP00000508479.1:n.*718C>T
ENST00000693287.1:c.457C>T ENSP00000510264.1:p.His153Tyr
ENST00000693681.1:c.454C>T ENSP00000510789.1:p.His152Tyr
ENST00000233838.9:c.1141C>T MANE Select ENSP00000233838.3:p.His381Tyr
ENST00000233838.8:c.1141C>T ENSP00000233838.3:p.His381Tyr
ENST00000430215.7:c.970C>T ENSP00000408045.3:p.His324Tyr
ENST00000465637.5:n.179-5242C>T
ENST00000473665.1:n.634C>T
ENST00000482662.1:n.558C>T
NM_000821.5:c.1141C>T NP_000812.2:p.His381Tyr
NM_000821.6:c.1141C>T NP_000812.2:p.His381Tyr
NM_001142269.2:c.970C>T NP_001135741.1:p.His324Tyr
NM_001142269.3:c.970C>T NP_001135741.1:p.His324Tyr
XM_005264259.3:c.1141C>T XP_005264316.1:p.His381Tyr
XM_011532764.1:c.319C>T XP_011531066.1:p.His107Tyr
XM_011532765.1:c.319C>T XP_011531067.1:p.His107Tyr
XR_939677.1:n.1206C>T
XM_005264259.5:c.1141C>T XP_005264316.1:p.His381Tyr
XM_011532764.3:c.319C>T XP_011531066.1:p.His107Tyr
XM_011532765.3:c.319C>T XP_011531067.1:p.His107Tyr
XM_017003803.2:c.970C>T XP_016859292.1:p.His324Tyr
XR_001738703.2:n.1206C>T
NM_000821.7:c.1141C>T MANE Select NP_000812.2:p.His381Tyr
NM_001142269.4:c.970C>T NP_001135741.1:p.His324Tyr