Canonical Allele Identifier: CA1741952

Gene: GGCX

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553397C>G , CM000664.2:g.85553397C>G	GRCh38
NC_000002.11:g.85780520C>G , CM000664.1:g.85780520C>G	GRCh37
NC_000002.10:g.85634031C>G	NCBI36
NG_011811.2:g.13138G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000821.7:c.990G>C MANE Select	NP_000812.2:p.Leu330=
ENST00000233838.9:c.990G>C MANE Select	ENSP00000233838.3:p.Leu330=
NM_000821.5:c.990G>C	NP_000812.2:p.Leu330=
NM_000821.6:c.990G>C	NP_000812.2:p.Leu330=
NM_001142269.2:c.819G>C	NP_001135741.1:p.Leu273=
NM_001142269.3:c.819G>C	NP_001135741.1:p.Leu273=
NM_001142269.4:c.819G>C	NP_001135741.1:p.Leu273=
ENST00000233838.8:c.990G>C	ENSP00000233838.3:p.Leu330=
ENST00000430215.7:c.819G>C	ENSP00000408045.3:p.Leu273=
ENST00000465637.5:n.179-5393G>C
ENST00000473665.1:n.483G>C
ENST00000473665.2:n.5034G>C
ENST00000482662.1:n.407G>C
ENST00000482662.2:n.3441G>C
ENST00000685865.1:n.1393G>C
ENST00000687250.1:n.1093G>C
ENST00000687995.1:n.1342G>C
ENST00000688205.1:c.*583G>C	ENSP00000509673.1:n.*583G>C
ENST00000688788.1:n.1229G>C
ENST00000689276.1:c.921G>C	ENSP00000510012.1:p.Leu307=
ENST00000689576.1:c.990G>C	ENSP00000508712.1:p.Leu330=
ENST00000690108.1:c.*646G>C	ENSP00000510617.1:n.*646G>C
ENST00000690468.1:c.711G>C	ENSP00000509078.1:p.Leu237=
ENST00000690595.1:c.315G>C	ENSP00000508979.1:p.Leu105=
ENST00000691348.1:c.819G>C	ENSP00000509369.1:p.Leu273=
ENST00000691410.1:c.*567G>C	ENSP00000508479.1:n.*567G>C
ENST00000693287.1:c.306G>C	ENSP00000510264.1:p.Leu102=
ENST00000693681.1:c.303G>C	ENSP00000510789.1:p.Leu101=
XM_005264259.3:c.990G>C	XP_005264316.1:p.Leu330=
XM_005264259.5:c.990G>C	XP_005264316.1:p.Leu330=
XM_011532764.1:c.168G>C	XP_011531066.1:p.Leu56=
XM_011532764.3:c.168G>C	XP_011531066.1:p.Leu56=
XM_011532765.1:c.168G>C	XP_011531067.1:p.Leu56=
XM_011532765.3:c.168G>C	XP_011531067.1:p.Leu56=
XM_017003803.2:c.819G>C	XP_016859292.1:p.Leu273=
XR_001738703.2:n.1055G>C
XR_939677.1:n.1055G>C