Canonical Allele Identifier: CA2659854358
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85553160-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553160T>G , CM000664.2:g.85553160T>G GRCh38
NC_000002.11:g.85780283T>G , CM000664.1:g.85780283T>G GRCh37
NC_000002.10:g.85633794T>G NCBI36
NG_011811.2:g.13375A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5199+72A>C
ENST00000482662.2:n.3606+72A>C
ENST00000685865.1:n.1558+72A>C
ENST00000687250.1:n.1258+72A>C
ENST00000687995.1:n.1507+72A>C
ENST00000688205.1:c.*748+72A>C ENSP00000509673.1:n.*748+72A>C
ENST00000688788.1:n.1394+72A>C
ENST00000689276.1:c.1086+72A>C ENSP00000510012.1:n.1086+72A>C
ENST00000689576.1:c.1155+72A>C ENSP00000508712.1:n.1155+72A>C
ENST00000690108.1:c.*811+72A>C ENSP00000510617.1:n.*811+72A>C
ENST00000690468.1:c.876+72A>C ENSP00000509078.1:n.876+72A>C
ENST00000690595.1:c.480+72A>C ENSP00000508979.1:n.480+72A>C
ENST00000691348.1:c.984+72A>C ENSP00000509369.1:n.984+72A>C
ENST00000691410.1:c.*732+72A>C ENSP00000508479.1:n.*732+72A>C
ENST00000693287.1:c.471+72A>C ENSP00000510264.1:n.471+72A>C
ENST00000693681.1:c.468+72A>C ENSP00000510789.1:n.468+72A>C
ENST00000233838.9:c.1155+72A>C MANE Select ENSP00000233838.3:n.1155+72A>C
ENST00000233838.8:c.1155+72A>C ENSP00000233838.3:n.1155+72A>C
ENST00000430215.7:c.984+72A>C ENSP00000408045.3:n.984+72A>C
ENST00000465637.5:n.179-5156A>C
ENST00000473665.1:n.648+72A>C
ENST00000482662.1:n.572+72A>C
NM_000821.5:c.1155+72A>C NP_000812.2:n.1155+72A>C
NM_000821.6:c.1155+72A>C NP_000812.2:n.1155+72A>C
NM_001142269.2:c.984+72A>C NP_001135741.1:n.984+72A>C
NM_001142269.3:c.984+72A>C NP_001135741.1:n.984+72A>C
XM_005264259.3:c.1155+72A>C XP_005264316.1:n.1155+72A>C
XM_011532764.1:c.333+72A>C XP_011531066.1:n.333+72A>C
XM_011532765.1:c.333+72A>C XP_011531067.1:n.333+72A>C
XR_939677.1:n.1220+72A>C
XM_005264259.5:c.1155+72A>C XP_005264316.1:n.1155+72A>C
XM_011532764.3:c.333+72A>C XP_011531066.1:n.333+72A>C
XM_011532765.3:c.333+72A>C XP_011531067.1:n.333+72A>C
XM_017003803.2:c.984+72A>C XP_016859292.1:n.984+72A>C
XR_001738703.2:n.1220+72A>C
NM_000821.7:c.1155+72A>C MANE Select NP_000812.2:n.1155+72A>C
NM_001142269.4:c.984+72A>C NP_001135741.1:n.984+72A>C