Canonical Allele Identifier: CA347487333

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780371G>A (hg19) ; chr2:g.85553248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553248G>A , CM000664.2:g.85553248G>A	GRCh38
NC_000002.11:g.85780371G>A , CM000664.1:g.85780371G>A	GRCh37
NC_000002.10:g.85633882G>A	NCBI36
NG_011811.2:g.13287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5183C>T
ENST00000482662.2:n.3590C>T
ENST00000685865.1:n.1542C>T
ENST00000687250.1:n.1242C>T
ENST00000687995.1:n.1491C>T
ENST00000688205.1:c.*732C>T	ENSP00000509673.1:n.*732C>T
ENST00000688788.1:n.1378C>T
ENST00000689276.1:c.1070C>T	ENSP00000510012.1:p.Ser357Phe
ENST00000689576.1:c.1139C>T	ENSP00000508712.1:p.Ser380Phe
ENST00000690108.1:c.*795C>T	ENSP00000510617.1:n.*795C>T
ENST00000690468.1:c.860C>T	ENSP00000509078.1:p.Ser287Phe
ENST00000690595.1:c.464C>T	ENSP00000508979.1:p.Ser155Phe
ENST00000691348.1:c.968C>T	ENSP00000509369.1:p.Ser323Phe
ENST00000691410.1:c.*716C>T	ENSP00000508479.1:n.*716C>T
ENST00000693287.1:c.455C>T	ENSP00000510264.1:p.Ser152Phe
ENST00000693681.1:c.452C>T	ENSP00000510789.1:p.Ser151Phe
ENST00000233838.9:c.1139C>T MANE Select	ENSP00000233838.3:p.Ser380Phe
ENST00000233838.8:c.1139C>T	ENSP00000233838.3:p.Ser380Phe
ENST00000430215.7:c.968C>T	ENSP00000408045.3:p.Ser323Phe
ENST00000465637.5:n.179-5244C>T
ENST00000473665.1:n.632C>T
ENST00000482662.1:n.556C>T
NM_000821.5:c.1139C>T	NP_000812.2:p.Ser380Phe
NM_000821.6:c.1139C>T	NP_000812.2:p.Ser380Phe
NM_001142269.2:c.968C>T	NP_001135741.1:p.Ser323Phe
NM_001142269.3:c.968C>T	NP_001135741.1:p.Ser323Phe
XM_005264259.3:c.1139C>T	XP_005264316.1:p.Ser380Phe
XM_011532764.1:c.317C>T	XP_011531066.1:p.Ser106Phe
XM_011532765.1:c.317C>T	XP_011531067.1:p.Ser106Phe
XR_939677.1:n.1204C>T
XM_005264259.5:c.1139C>T	XP_005264316.1:p.Ser380Phe
XM_011532764.3:c.317C>T	XP_011531066.1:p.Ser106Phe
XM_011532765.3:c.317C>T	XP_011531067.1:p.Ser106Phe
XM_017003803.2:c.968C>T	XP_016859292.1:p.Ser323Phe
XR_001738703.2:n.1204C>T
NM_000821.7:c.1139C>T MANE Select	NP_000812.2:p.Ser380Phe
NM_001142269.4:c.968C>T	NP_001135741.1:p.Ser323Phe