Canonical Allele Identifier: CA534174694
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1166453513
gnomAD v2: 2-85786224-C-T
gnomAD v4: 2-85559101-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85559101C>T , CM000664.2:g.85559101C>T GRCh38
NC_000002.11:g.85786224C>T , CM000664.1:g.85786224C>T GRCh37
NC_000002.10:g.85639735C>T NCBI36
NG_011811.2:g.7434G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000482662.2:n.282-26G>A
ENST00000496962.2:c.215-26G>A ENSP00000508856.1:n.215-26G>A
ENST00000685865.1:n.307-26G>A
ENST00000687250.1:n.318-26G>A
ENST00000687995.1:n.256-26G>A
ENST00000688205.1:c.215-26G>A ENSP00000509673.1:n.215-26G>A
ENST00000688788.1:n.307-26G>A
ENST00000689276.1:c.215-26G>A ENSP00000510012.1:n.215-26G>A
ENST00000689576.1:c.215-26G>A ENSP00000508712.1:n.215-26G>A
ENST00000690108.1:c.215-26G>A ENSP00000510617.1:n.215-26G>A
ENST00000690468.1:c.44-26G>A ENSP00000509078.1:n.44-26G>A
ENST00000690595.1:c.214+1714G>A ENSP00000508979.1:n.214+1714G>A
ENST00000691348.1:c.44-26G>A ENSP00000509369.1:n.44-26G>A
ENST00000691410.1:c.215-26G>A ENSP00000508479.1:n.215-26G>A
ENST00000693287.1:c.-67+2285G>A ENSP00000510264.1:n.-67+2285G>A
ENST00000693681.1:c.44-26G>A ENSP00000510789.1:n.44-26G>A
ENST00000233838.9:c.215-26G>A MANE Select ENSP00000233838.3:n.215-26G>A
ENST00000233838.8:c.215-26G>A ENSP00000233838.3:n.215-26G>A
ENST00000421496.5:c.44-26G>A ENSP00000400384.1:n.44-26G>A
ENST00000423570.5:c.215-26G>A ENSP00000389426.1:n.215-26G>A
ENST00000428479.3:c.44-26G>A ENSP00000390748.3:n.44-26G>A
ENST00000430215.7:c.44-26G>A ENSP00000408045.3:n.44-26G>A
ENST00000465637.5:n.109-26G>A
ENST00000481541.1:n.109-26G>A
ENST00000496962.1:n.334-26G>A
NM_000821.5:c.215-26G>A NP_000812.2:n.215-26G>A
NM_000821.6:c.215-26G>A NP_000812.2:n.215-26G>A
NM_001142269.2:c.44-26G>A NP_001135741.1:n.44-26G>A
NM_001142269.3:c.44-26G>A NP_001135741.1:n.44-26G>A
NM_001311312.1:c.215-26G>A NP_001298241.1:n.215-26G>A
XM_005264259.3:c.215-26G>A XP_005264316.1:n.215-26G>A
XM_011532764.1:c.-444-26G>A XP_011531066.1:n.-444-26G>A
XM_011532765.1:c.-444-26G>A XP_011531067.1:n.-444-26G>A
XR_939677.1:n.280-26G>A
XM_005264259.5:c.215-26G>A XP_005264316.1:n.215-26G>A
XM_011532764.3:c.-444-26G>A XP_011531066.1:n.-444-26G>A
XM_011532765.3:c.-444-26G>A XP_011531067.1:n.-444-26G>A
XM_017003803.2:c.44-26G>A XP_016859292.1:n.44-26G>A
XR_001738703.2:n.280-26G>A
NM_000821.7:c.215-26G>A MANE Select NP_000812.2:n.215-26G>A
NM_001142269.4:c.44-26G>A NP_001135741.1:n.44-26G>A
NM_001311312.2:c.215-26G>A NP_001298241.1:n.215-26G>A