Canonical Allele Identifier: CA347487398
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85553265-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553265C>A , CM000664.2:g.85553265C>A GRCh38
NC_000002.11:g.85780388C>A , CM000664.1:g.85780388C>A GRCh37
NC_000002.10:g.85633899C>A NCBI36
NG_011811.2:g.13270G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5166G>T
ENST00000482662.2:n.3573G>T
ENST00000685865.1:n.1525G>T
ENST00000687250.1:n.1225G>T
ENST00000687995.1:n.1474G>T
ENST00000688205.1:c.*715G>T ENSP00000509673.1:n.*715G>T
ENST00000688788.1:n.1361G>T
ENST00000689276.1:c.1053G>T ENSP00000510012.1:p.Gln351His
ENST00000689576.1:c.1122G>T ENSP00000508712.1:p.Gln374His
ENST00000690108.1:c.*778G>T ENSP00000510617.1:n.*778G>T
ENST00000690468.1:c.843G>T ENSP00000509078.1:p.Gln281His
ENST00000690595.1:c.447G>T ENSP00000508979.1:p.Gln149His
ENST00000691348.1:c.951G>T ENSP00000509369.1:p.Gln317His
ENST00000691410.1:c.*699G>T ENSP00000508479.1:n.*699G>T
ENST00000693287.1:c.438G>T ENSP00000510264.1:p.Gln146His
ENST00000693681.1:c.435G>T ENSP00000510789.1:p.Gln145His
ENST00000233838.9:c.1122G>T MANE Select ENSP00000233838.3:p.Gln374His
ENST00000233838.8:c.1122G>T ENSP00000233838.3:p.Gln374His
ENST00000430215.7:c.951G>T ENSP00000408045.3:p.Gln317His
ENST00000465637.5:n.179-5261G>T
ENST00000473665.1:n.615G>T
ENST00000482662.1:n.539G>T
NM_000821.5:c.1122G>T NP_000812.2:p.Gln374His
NM_000821.6:c.1122G>T NP_000812.2:p.Gln374His
NM_001142269.2:c.951G>T NP_001135741.1:p.Gln317His
NM_001142269.3:c.951G>T NP_001135741.1:p.Gln317His
XM_005264259.3:c.1122G>T XP_005264316.1:p.Gln374His
XM_011532764.1:c.300G>T XP_011531066.1:p.Gln100His
XM_011532765.1:c.300G>T XP_011531067.1:p.Gln100His
XR_939677.1:n.1187G>T
XM_005264259.5:c.1122G>T XP_005264316.1:p.Gln374His
XM_011532764.3:c.300G>T XP_011531066.1:p.Gln100His
XM_011532765.3:c.300G>T XP_011531067.1:p.Gln100His
XM_017003803.2:c.951G>T XP_016859292.1:p.Gln317His
XR_001738703.2:n.1187G>T
NM_000821.7:c.1122G>T MANE Select NP_000812.2:p.Gln374His
NM_001142269.4:c.951G>T NP_001135741.1:p.Gln317His