Canonical Allele Identifier: CA51737840

Gene: GGCX

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85555555C>T , CM000664.2:g.85555555C>T	GRCh38
NC_000002.11:g.85782678C>T , CM000664.1:g.85782678C>T	GRCh37
NC_000002.10:g.85636189C>T	NCBI36
NG_011811.2:g.10980G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000821.7:c.654G>A MANE Select	NP_000812.2:p.Lys218=
ENST00000233838.9:c.654G>A MANE Select	ENSP00000233838.3:p.Lys218=
NM_000821.5:c.654G>A	NP_000812.2:p.Lys218=
NM_000821.6:c.654G>A	NP_000812.2:p.Lys218=
NM_001142269.2:c.483G>A	NP_001135741.1:p.Lys161=
NM_001142269.3:c.483G>A	NP_001135741.1:p.Lys161=
NM_001142269.4:c.483G>A	NP_001135741.1:p.Lys161=
ENST00000233838.8:c.654G>A	ENSP00000233838.3:p.Lys218=
ENST00000423570.5:c.*211G>A	ENSP00000389426.1:n.*211G>A
ENST00000430215.7:c.483G>A	ENSP00000408045.3:p.Lys161=
ENST00000465637.5:n.178+3451G>A
ENST00000473665.2:n.3521G>A
ENST00000482662.2:n.1283G>A
ENST00000685865.1:n.1057G>A
ENST00000687250.1:n.757G>A
ENST00000687995.1:n.1006G>A
ENST00000688205.1:c.654G>A	ENSP00000509673.1:p.Lys218=
ENST00000688788.1:n.1057G>A
ENST00000689276.1:c.585G>A	ENSP00000510012.1:p.Lys195=
ENST00000689576.1:c.654G>A	ENSP00000508712.1:p.Lys218=
ENST00000690108.1:c.*310G>A	ENSP00000510617.1:n.*310G>A
ENST00000690468.1:c.375G>A	ENSP00000509078.1:p.Lys125=
ENST00000690595.1:c.215-2058G>A	ENSP00000508979.1:n.215-2058G>A
ENST00000691348.1:c.483G>A	ENSP00000509369.1:p.Lys161=
ENST00000691410.1:c.*231G>A	ENSP00000508479.1:n.*231G>A
ENST00000693287.1:c.-31G>A	ENSP00000510264.1:n.-31G>A
ENST00000693681.1:c.203-2058G>A	ENSP00000510789.1:n.203-2058G>A
XM_005264259.3:c.654G>A	XP_005264316.1:p.Lys218=
XM_005264259.5:c.654G>A	XP_005264316.1:p.Lys218=
XM_011532764.1:c.-5G>A	XP_011531066.1:n.-5G>A
XM_011532764.3:c.-5G>A	XP_011531066.1:n.-5G>A
XM_011532765.1:c.-5G>A	XP_011531067.1:n.-5G>A
XM_011532765.3:c.-5G>A	XP_011531067.1:n.-5G>A
XM_017003803.2:c.483G>A	XP_016859292.1:p.Lys161=
XR_001738703.2:n.719G>A
XR_939677.1:n.719G>A