Canonical Allele Identifier: CA534627832
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1410164314
gnomAD v2: 2-85780208-C-T
gnomAD v4: 2-85553085-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553085C>T , CM000664.2:g.85553085C>T GRCh38
NC_000002.11:g.85780208C>T , CM000664.1:g.85780208C>T GRCh37
NC_000002.10:g.85633719C>T NCBI36
NG_011811.2:g.13450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5200-15G>A
ENST00000482662.2:n.3607-15G>A
ENST00000685865.1:n.1559-15G>A
ENST00000687250.1:n.1259-15G>A
ENST00000687995.1:n.1508-15G>A
ENST00000688205.1:c.*749-15G>A ENSP00000509673.1:n.*749-15G>A
ENST00000688788.1:n.1395-15G>A
ENST00000689276.1:c.1087-15G>A ENSP00000510012.1:n.1087-15G>A
ENST00000689576.1:c.1156-15G>A ENSP00000508712.1:n.1156-15G>A
ENST00000690108.1:c.*812-15G>A ENSP00000510617.1:n.*812-15G>A
ENST00000690468.1:c.877-15G>A ENSP00000509078.1:n.877-15G>A
ENST00000690595.1:c.481-15G>A ENSP00000508979.1:n.481-15G>A
ENST00000691348.1:c.985-15G>A ENSP00000509369.1:n.985-15G>A
ENST00000691410.1:c.*733-15G>A ENSP00000508479.1:n.*733-15G>A
ENST00000693287.1:c.472-15G>A ENSP00000510264.1:n.472-15G>A
ENST00000693681.1:c.469-15G>A ENSP00000510789.1:n.469-15G>A
ENST00000233838.9:c.1156-15G>A MANE Select ENSP00000233838.3:n.1156-15G>A
ENST00000233838.8:c.1156-15G>A ENSP00000233838.3:n.1156-15G>A
ENST00000430215.7:c.985-15G>A ENSP00000408045.3:n.985-15G>A
ENST00000465637.5:n.179-5081G>A
ENST00000473665.1:n.649-15G>A
ENST00000482662.1:n.573-15G>A
NM_000821.5:c.1156-15G>A NP_000812.2:n.1156-15G>A
NM_000821.6:c.1156-15G>A NP_000812.2:n.1156-15G>A
NM_001142269.2:c.985-15G>A NP_001135741.1:n.985-15G>A
NM_001142269.3:c.985-15G>A NP_001135741.1:n.985-15G>A
XM_005264259.3:c.1156-15G>A XP_005264316.1:n.1156-15G>A
XM_011532764.1:c.334-15G>A XP_011531066.1:n.334-15G>A
XM_011532765.1:c.334-15G>A XP_011531067.1:n.334-15G>A
XR_939677.1:n.1221-15G>A
XM_005264259.5:c.1156-15G>A XP_005264316.1:n.1156-15G>A
XM_011532764.3:c.334-15G>A XP_011531066.1:n.334-15G>A
XM_011532765.3:c.334-15G>A XP_011531067.1:n.334-15G>A
XM_017003803.2:c.985-15G>A XP_016859292.1:n.985-15G>A
XR_001738703.2:n.1221-15G>A
NM_000821.7:c.1156-15G>A MANE Select NP_000812.2:n.1156-15G>A
NM_001142269.4:c.985-15G>A NP_001135741.1:n.985-15G>A