Canonical Allele Identifier: CA2659852700
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85551750-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551750T>C , CM000664.2:g.85551750T>C GRCh38
NC_000002.11:g.85778873T>C , CM000664.1:g.85778873T>C GRCh37
NC_000002.10:g.85632384T>C NCBI36
NG_011811.2:g.14785A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6087+62A>G
ENST00000482662.2:n.4494+62A>G
ENST00000685865.1:n.2508A>G
ENST00000687250.1:n.2146+62A>G
ENST00000687995.1:n.1961+62A>G
ENST00000688205.1:c.*1202+62A>G ENSP00000509673.1:n.*1202+62A>G
ENST00000688788.1:n.1848+62A>G
ENST00000689276.1:c.1540+62A>G ENSP00000510012.1:n.1540+62A>G
ENST00000689576.1:c.*228+62A>G ENSP00000508712.1:n.*228+62A>G
ENST00000690108.1:c.*1265+62A>G ENSP00000510617.1:n.*1265+62A>G
ENST00000690468.1:c.*161+62A>G ENSP00000509078.1:n.*161+62A>G
ENST00000690595.1:c.934+62A>G ENSP00000508979.1:n.934+62A>G
ENST00000691348.1:c.*161+62A>G ENSP00000509369.1:n.*161+62A>G
ENST00000691410.1:c.*1186+62A>G ENSP00000508479.1:n.*1186+62A>G
ENST00000693287.1:c.925+62A>G ENSP00000510264.1:n.925+62A>G
ENST00000693681.1:c.922+62A>G ENSP00000510789.1:n.922+62A>G
ENST00000233838.9:c.1609+62A>G MANE Select ENSP00000233838.3:n.1609+62A>G
ENST00000233838.8:c.1609+62A>G ENSP00000233838.3:n.1609+62A>G
ENST00000430215.7:c.1438+62A>G ENSP00000408045.3:n.1438+62A>G
ENST00000465637.5:n.179-3746A>G
NM_000821.5:c.1609+62A>G NP_000812.2:n.1609+62A>G
NM_000821.6:c.1609+62A>G NP_000812.2:n.1609+62A>G
NM_001142269.2:c.1438+62A>G NP_001135741.1:n.1438+62A>G
NM_001142269.3:c.1438+62A>G NP_001135741.1:n.1438+62A>G
XM_005264259.3:c.1609+62A>G XP_005264316.1:n.1609+62A>G
XM_011532764.1:c.787+62A>G XP_011531066.1:n.787+62A>G
XM_011532765.1:c.787+62A>G XP_011531067.1:n.787+62A>G
XR_939677.1:n.1522+62A>G
XM_005264259.5:c.1609+62A>G XP_005264316.1:n.1609+62A>G
XM_011532764.3:c.787+62A>G XP_011531066.1:n.787+62A>G
XM_011532765.3:c.787+62A>G XP_011531067.1:n.787+62A>G
XM_017003803.2:c.1438+62A>G XP_016859292.1:n.1438+62A>G
XR_001738703.2:n.1522+62A>G
NM_000821.7:c.1609+62A>G MANE Select NP_000812.2:n.1609+62A>G
NM_001142269.4:c.1438+62A>G NP_001135741.1:n.1438+62A>G