Canonical Allele Identifier: CA2659854336
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85553121-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553121C>G , CM000664.2:g.85553121C>G GRCh38
NC_000002.11:g.85780244C>G , CM000664.1:g.85780244C>G GRCh37
NC_000002.10:g.85633755C>G NCBI36
NG_011811.2:g.13414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5200-51G>C
ENST00000482662.2:n.3607-51G>C
ENST00000685865.1:n.1559-51G>C
ENST00000687250.1:n.1259-51G>C
ENST00000687995.1:n.1508-51G>C
ENST00000688205.1:c.*749-51G>C ENSP00000509673.1:n.*749-51G>C
ENST00000688788.1:n.1395-51G>C
ENST00000689276.1:c.1087-51G>C ENSP00000510012.1:n.1087-51G>C
ENST00000689576.1:c.1156-51G>C ENSP00000508712.1:n.1156-51G>C
ENST00000690108.1:c.*812-51G>C ENSP00000510617.1:n.*812-51G>C
ENST00000690468.1:c.877-51G>C ENSP00000509078.1:n.877-51G>C
ENST00000690595.1:c.481-51G>C ENSP00000508979.1:n.481-51G>C
ENST00000691348.1:c.985-51G>C ENSP00000509369.1:n.985-51G>C
ENST00000691410.1:c.*733-51G>C ENSP00000508479.1:n.*733-51G>C
ENST00000693287.1:c.472-51G>C ENSP00000510264.1:n.472-51G>C
ENST00000693681.1:c.469-51G>C ENSP00000510789.1:n.469-51G>C
ENST00000233838.9:c.1156-51G>C MANE Select ENSP00000233838.3:n.1156-51G>C
ENST00000233838.8:c.1156-51G>C ENSP00000233838.3:n.1156-51G>C
ENST00000430215.7:c.985-51G>C ENSP00000408045.3:n.985-51G>C
ENST00000465637.5:n.179-5117G>C
ENST00000473665.1:n.649-51G>C
ENST00000482662.1:n.573-51G>C
NM_000821.5:c.1156-51G>C NP_000812.2:n.1156-51G>C
NM_000821.6:c.1156-51G>C NP_000812.2:n.1156-51G>C
NM_001142269.2:c.985-51G>C NP_001135741.1:n.985-51G>C
NM_001142269.3:c.985-51G>C NP_001135741.1:n.985-51G>C
XM_005264259.3:c.1156-51G>C XP_005264316.1:n.1156-51G>C
XM_011532764.1:c.334-51G>C XP_011531066.1:n.334-51G>C
XM_011532765.1:c.334-51G>C XP_011531067.1:n.334-51G>C
XR_939677.1:n.1221-51G>C
XM_005264259.5:c.1156-51G>C XP_005264316.1:n.1156-51G>C
XM_011532764.3:c.334-51G>C XP_011531066.1:n.334-51G>C
XM_011532765.3:c.334-51G>C XP_011531067.1:n.334-51G>C
XM_017003803.2:c.985-51G>C XP_016859292.1:n.985-51G>C
XR_001738703.2:n.1221-51G>C
NM_000821.7:c.1156-51G>C MANE Select NP_000812.2:n.1156-51G>C
NM_001142269.4:c.985-51G>C NP_001135741.1:n.985-51G>C