Canonical Allele Identifier: CA1033058524

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2127303
• ClinVar RCV Id: RCV003055431
• dbSNP Id: rs1691978712
• gnomAD v3: 2-85551997-C-T
• gnomAD v4: 2-85551997-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551997C>T , CM000664.2:g.85551997C>T	GRCh38
NC_000002.11:g.85779120C>T , CM000664.1:g.85779120C>T	GRCh37
NC_000002.10:g.85632631C>T	NCBI36
NG_011811.2:g.14538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5902G>A
ENST00000482662.2:n.4309G>A
ENST00000685865.1:n.2261G>A
ENST00000687250.1:n.1961G>A
ENST00000687995.1:n.1792-16G>A
ENST00000688205.1:c.*1033-16G>A	ENSP00000509673.1:n.*1033-16G>A
ENST00000688788.1:n.1679-16G>A
ENST00000689276.1:c.1371-16G>A	ENSP00000510012.1:n.1371-16G>A
ENST00000689576.1:c.*59-16G>A	ENSP00000508712.1:n.*59-16G>A
ENST00000690108.1:c.*1096-16G>A	ENSP00000510617.1:n.*1096-16G>A
ENST00000690468.1:c.1009-16G>A	ENSP00000509078.1:n.1009-16G>A
ENST00000690595.1:c.765-16G>A	ENSP00000508979.1:n.765-16G>A
ENST00000691348.1:c.1117-16G>A	ENSP00000509369.1:n.1117-16G>A
ENST00000691410.1:c.*1017-16G>A	ENSP00000508479.1:n.*1017-16G>A
ENST00000693287.1:c.756-16G>A	ENSP00000510264.1:n.756-16G>A
ENST00000693681.1:c.753-16G>A	ENSP00000510789.1:n.753-16G>A
ENST00000233838.9:c.1440-16G>A MANE Select	ENSP00000233838.3:n.1440-16G>A
ENST00000233838.8:c.1440-16G>A	ENSP00000233838.3:n.1440-16G>A
ENST00000430215.7:c.1269-16G>A	ENSP00000408045.3:n.1269-16G>A
ENST00000465637.5:n.179-3993G>A
NM_000821.5:c.1440-16G>A	NP_000812.2:n.1440-16G>A
NM_000821.6:c.1440-16G>A	NP_000812.2:n.1440-16G>A
NM_001142269.2:c.1269-16G>A	NP_001135741.1:n.1269-16G>A
NM_001142269.3:c.1269-16G>A	NP_001135741.1:n.1269-16G>A
XM_005264259.3:c.1440-16G>A	XP_005264316.1:n.1440-16G>A
XM_011532764.1:c.618-16G>A	XP_011531066.1:n.618-16G>A
XM_011532765.1:c.618-16G>A	XP_011531067.1:n.618-16G>A
XR_939677.1:n.1353-16G>A
XM_005264259.5:c.1440-16G>A	XP_005264316.1:n.1440-16G>A
XM_011532764.3:c.618-16G>A	XP_011531066.1:n.618-16G>A
XM_011532765.3:c.618-16G>A	XP_011531067.1:n.618-16G>A
XM_017003803.2:c.1269-16G>A	XP_016859292.1:n.1269-16G>A
XR_001738703.2:n.1353-16G>A
NM_000821.7:c.1440-16G>A MANE Select	NP_000812.2:n.1440-16G>A
NM_001142269.4:c.1269-16G>A	NP_001135741.1:n.1269-16G>A