Canonical Allele Identifier: CA913189973

Gene: GGCX

Linked Data

• ClinVar Variation Id: 632367
• ClinVar RCV Id: RCV000779339
• dbSNP Id: rs1558807827

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553247dup , CM000664.2:g.85553247dup	GRCh38
NC_000002.11:g.85780370dup , CM000664.1:g.85780370dup	GRCh37
NC_000002.10:g.85633881dup	NCBI36
NG_011811.2:g.13288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5184dup
ENST00000482662.2:n.3591dup
ENST00000685865.1:n.1543dup
ENST00000687250.1:n.1243dup
ENST00000687995.1:n.1492dup
ENST00000688205.1:c.*733dup	ENSP00000509673.1:n.*733dup
ENST00000688788.1:n.1379dup
ENST00000689276.1:c.1071dup	ENSP00000510012.1:p.His358SerfsTer8
ENST00000689576.1:c.1140dup	ENSP00000508712.1:p.His381SerfsTer8
ENST00000690108.1:c.*796dup	ENSP00000510617.1:n.*796dup
ENST00000690468.1:c.861dup	ENSP00000509078.1:p.His288SerfsTer8
ENST00000690595.1:c.465dup	ENSP00000508979.1:p.His156SerfsTer8
ENST00000691348.1:c.969dup	ENSP00000509369.1:p.His324SerfsTer8
ENST00000691410.1:c.*717dup	ENSP00000508479.1:n.*717dup
ENST00000693287.1:c.456dup	ENSP00000510264.1:p.His153SerfsTer8
ENST00000693681.1:c.453dup	ENSP00000510789.1:p.His152SerfsTer8
ENST00000233838.9:c.1140dup MANE Select	ENSP00000233838.3:p.His381SerfsTer8
ENST00000233838.8:c.1140dup	ENSP00000233838.3:p.His381SerfsTer8
ENST00000430215.7:c.969dup	ENSP00000408045.3:p.His324SerfsTer8
ENST00000465637.5:n.179-5243dup
ENST00000473665.1:n.633dup
ENST00000482662.1:n.557dup
NM_000821.5:c.1140dup	NP_000812.2:p.His381SerfsTer8
NM_000821.6:c.1140dup	NP_000812.2:p.His381SerfsTer8
NM_001142269.2:c.969dup	NP_001135741.1:p.His324SerfsTer8
NM_001142269.3:c.969dup	NP_001135741.1:p.His324SerfsTer8
XM_005264259.3:c.1140dup	XP_005264316.1:p.His381SerfsTer8
XM_011532764.1:c.318dup	XP_011531066.1:p.His107SerfsTer8
XM_011532765.1:c.318dup	XP_011531067.1:p.His107SerfsTer8
XR_939677.1:n.1205dup
XM_005264259.5:c.1140dup	XP_005264316.1:p.His381SerfsTer8
XM_011532764.3:c.318dup	XP_011531066.1:p.His107SerfsTer8
XM_011532765.3:c.318dup	XP_011531067.1:p.His107SerfsTer8
XM_017003803.2:c.969dup	XP_016859292.1:p.His324SerfsTer8
XR_001738703.2:n.1205dup
NM_000821.7:c.1140dup MANE Select	NP_000812.2:p.His381SerfsTer8
NM_001142269.4:c.969dup	NP_001135741.1:p.His324SerfsTer8