Canonical Allele Identifier: CA347484888
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85551887-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551887A>G , CM000664.2:g.85551887A>G GRCh38
NC_000002.11:g.85779010A>G , CM000664.1:g.85779010A>G GRCh37
NC_000002.10:g.85632521A>G NCBI36
NG_011811.2:g.14648T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6012T>C
ENST00000482662.2:n.4419T>C
ENST00000685865.1:n.2371T>C
ENST00000687250.1:n.2071T>C
ENST00000687995.1:n.1886T>C
ENST00000688205.1:c.*1127T>C ENSP00000509673.1:n.*1127T>C
ENST00000688788.1:n.1773T>C
ENST00000689276.1:c.1465T>C ENSP00000510012.1:p.Trp489Arg
ENST00000689576.1:c.*153T>C ENSP00000508712.1:n.*153T>C
ENST00000690108.1:c.*1190T>C ENSP00000510617.1:n.*1190T>C
ENST00000690468.1:c.*86T>C ENSP00000509078.1:n.*86T>C
ENST00000690595.1:c.859T>C ENSP00000508979.1:p.Trp287Arg
ENST00000691348.1:c.*86T>C ENSP00000509369.1:n.*86T>C
ENST00000691410.1:c.*1111T>C ENSP00000508479.1:n.*1111T>C
ENST00000693287.1:c.850T>C ENSP00000510264.1:p.Trp284Arg
ENST00000693681.1:c.847T>C ENSP00000510789.1:p.Trp283Arg
ENST00000233838.9:c.1534T>C MANE Select ENSP00000233838.3:p.Trp512Arg
ENST00000233838.8:c.1534T>C ENSP00000233838.3:p.Trp512Arg
ENST00000430215.7:c.1363T>C ENSP00000408045.3:p.Trp455Arg
ENST00000465637.5:n.179-3883T>C
NM_000821.5:c.1534T>C NP_000812.2:p.Trp512Arg
NM_000821.6:c.1534T>C NP_000812.2:p.Trp512Arg
NM_001142269.2:c.1363T>C NP_001135741.1:p.Trp455Arg
NM_001142269.3:c.1363T>C NP_001135741.1:p.Trp455Arg
XM_005264259.3:c.1534T>C XP_005264316.1:p.Trp512Arg
XM_011532764.1:c.712T>C XP_011531066.1:p.Trp238Arg
XM_011532765.1:c.712T>C XP_011531067.1:p.Trp238Arg
XR_939677.1:n.1447T>C
XM_005264259.5:c.1534T>C XP_005264316.1:p.Trp512Arg
XM_011532764.3:c.712T>C XP_011531066.1:p.Trp238Arg
XM_011532765.3:c.712T>C XP_011531067.1:p.Trp238Arg
XM_017003803.2:c.1363T>C XP_016859292.1:p.Trp455Arg
XR_001738703.2:n.1447T>C
NM_000821.7:c.1534T>C MANE Select NP_000812.2:p.Trp512Arg
NM_001142269.4:c.1363T>C NP_001135741.1:p.Trp455Arg