Canonical Allele Identifier: CA1266820895
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691672529
gnomAD v4: 2-85546483-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546483A>G , CM000664.2:g.85546483A>G GRCh38
NC_000002.11:g.85773606A>G , CM000664.1:g.85773606A>G GRCh37
NC_000002.10:g.85627117A>G NCBI36
NG_011811.2:g.20052T>C
NG_029183.1:g.12506A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3451T>C MANE Select ENSP00000233838.3:n.*3451T>C
ENST00000233838.8:c.*3451T>C ENSP00000233838.3:n.*3451T>C
NM_000821.5:c.*3451T>C NP_000812.2:n.*3451T>C
NM_000821.6:c.*3451T>C NP_000812.2:n.*3451T>C
NM_001142269.2:c.*3451T>C NP_001135741.1:n.*3451T>C
NM_001142269.3:c.*3451T>C NP_001135741.1:n.*3451T>C
NM_000821.7:c.*3451T>C MANE Select NP_000812.2:n.*3451T>C
NM_001142269.4:c.*3451T>C NP_001135741.1:n.*3451T>C
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