Canonical Allele Identifier: CA427440049

Gene: GGCX

Linked Data

• dbSNP Id: rs1355655532
• MyVariant Identifiers: chr2:g.85780370A>G (hg19) ; chr2:g.85553247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553247A>G , CM000664.2:g.85553247A>G	GRCh38
NC_000002.11:g.85780370A>G , CM000664.1:g.85780370A>G	GRCh37
NC_000002.10:g.85633881A>G	NCBI36
NG_011811.2:g.13288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5184T>C
ENST00000482662.2:n.3591T>C
ENST00000685865.1:n.1543T>C
ENST00000687250.1:n.1243T>C
ENST00000687995.1:n.1492T>C
ENST00000688205.1:c.*733T>C	ENSP00000509673.1:n.*733T>C
ENST00000688788.1:n.1379T>C
ENST00000689276.1:c.1071T>C	ENSP00000510012.1:p.Ser357=
ENST00000689576.1:c.1140T>C	ENSP00000508712.1:p.Ser380=
ENST00000690108.1:c.*796T>C	ENSP00000510617.1:n.*796T>C
ENST00000690468.1:c.861T>C	ENSP00000509078.1:p.Ser287=
ENST00000690595.1:c.465T>C	ENSP00000508979.1:p.Ser155=
ENST00000691348.1:c.969T>C	ENSP00000509369.1:p.Ser323=
ENST00000691410.1:c.*717T>C	ENSP00000508479.1:n.*717T>C
ENST00000693287.1:c.456T>C	ENSP00000510264.1:p.Ser152=
ENST00000693681.1:c.453T>C	ENSP00000510789.1:p.Ser151=
ENST00000233838.9:c.1140T>C MANE Select	ENSP00000233838.3:p.Ser380=
ENST00000233838.8:c.1140T>C	ENSP00000233838.3:p.Ser380=
ENST00000430215.7:c.969T>C	ENSP00000408045.3:p.Ser323=
ENST00000465637.5:n.179-5243T>C
ENST00000473665.1:n.633T>C
ENST00000482662.1:n.557T>C
NM_000821.5:c.1140T>C	NP_000812.2:p.Ser380=
NM_000821.6:c.1140T>C	NP_000812.2:p.Ser380=
NM_001142269.2:c.969T>C	NP_001135741.1:p.Ser323=
NM_001142269.3:c.969T>C	NP_001135741.1:p.Ser323=
XM_005264259.3:c.1140T>C	XP_005264316.1:p.Ser380=
XM_011532764.1:c.318T>C	XP_011531066.1:p.Ser106=
XM_011532765.1:c.318T>C	XP_011531067.1:p.Ser106=
XR_939677.1:n.1205T>C
XM_005264259.5:c.1140T>C	XP_005264316.1:p.Ser380=
XM_011532764.3:c.318T>C	XP_011531066.1:p.Ser106=
XM_011532765.3:c.318T>C	XP_011531067.1:p.Ser106=
XM_017003803.2:c.969T>C	XP_016859292.1:p.Ser323=
XR_001738703.2:n.1205T>C
NM_000821.7:c.1140T>C MANE Select	NP_000812.2:p.Ser380=
NM_001142269.4:c.969T>C	NP_001135741.1:p.Ser323=