Canonical Allele Identifier: CA2577020931

Gene: GGCX

Linked Data

• ClinVar Variation Id: 1906347
• ClinVar RCV Id: RCV002586850
• gnomAD v4: 2-85553082-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553082G>A , CM000664.2:g.85553082G>A	GRCh38
NC_000002.11:g.85780205G>A , CM000664.1:g.85780205G>A	GRCh37
NC_000002.10:g.85633716G>A	NCBI36
NG_011811.2:g.13453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5200-12C>T
ENST00000482662.2:n.3607-12C>T
ENST00000685865.1:n.1559-12C>T
ENST00000687250.1:n.1259-12C>T
ENST00000687995.1:n.1508-12C>T
ENST00000688205.1:c.*749-12C>T	ENSP00000509673.1:n.*749-12C>T
ENST00000688788.1:n.1395-12C>T
ENST00000689276.1:c.1087-12C>T	ENSP00000510012.1:n.1087-12C>T
ENST00000689576.1:c.1156-12C>T	ENSP00000508712.1:n.1156-12C>T
ENST00000690108.1:c.*812-12C>T	ENSP00000510617.1:n.*812-12C>T
ENST00000690468.1:c.877-12C>T	ENSP00000509078.1:n.877-12C>T
ENST00000690595.1:c.481-12C>T	ENSP00000508979.1:n.481-12C>T
ENST00000691348.1:c.985-12C>T	ENSP00000509369.1:n.985-12C>T
ENST00000691410.1:c.*733-12C>T	ENSP00000508479.1:n.*733-12C>T
ENST00000693287.1:c.472-12C>T	ENSP00000510264.1:n.472-12C>T
ENST00000693681.1:c.469-12C>T	ENSP00000510789.1:n.469-12C>T
ENST00000233838.9:c.1156-12C>T MANE Select	ENSP00000233838.3:n.1156-12C>T
ENST00000233838.8:c.1156-12C>T	ENSP00000233838.3:n.1156-12C>T
ENST00000430215.7:c.985-12C>T	ENSP00000408045.3:n.985-12C>T
ENST00000465637.5:n.179-5078C>T
ENST00000473665.1:n.649-12C>T
ENST00000482662.1:n.573-12C>T
NM_000821.5:c.1156-12C>T	NP_000812.2:n.1156-12C>T
NM_000821.6:c.1156-12C>T	NP_000812.2:n.1156-12C>T
NM_001142269.2:c.985-12C>T	NP_001135741.1:n.985-12C>T
NM_001142269.3:c.985-12C>T	NP_001135741.1:n.985-12C>T
XM_005264259.3:c.1156-12C>T	XP_005264316.1:n.1156-12C>T
XM_011532764.1:c.334-12C>T	XP_011531066.1:n.334-12C>T
XM_011532765.1:c.334-12C>T	XP_011531067.1:n.334-12C>T
XR_939677.1:n.1221-12C>T
XM_005264259.5:c.1156-12C>T	XP_005264316.1:n.1156-12C>T
XM_011532764.3:c.334-12C>T	XP_011531066.1:n.334-12C>T
XM_011532765.3:c.334-12C>T	XP_011531067.1:n.334-12C>T
XM_017003803.2:c.985-12C>T	XP_016859292.1:n.985-12C>T
XR_001738703.2:n.1221-12C>T
NM_000821.7:c.1156-12C>T MANE Select	NP_000812.2:n.1156-12C>T
NM_001142269.4:c.985-12C>T	NP_001135741.1:n.985-12C>T