Canonical Allele Identifier: CA894034336
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1241641767
gnomAD v3: 2-85545951-T-C
gnomAD v4: 2-85545951-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85545951T>C , CM000664.2:g.85545951T>C GRCh38
NC_000002.11:g.85773074T>C , CM000664.1:g.85773074T>C GRCh37
NC_000002.10:g.85626585T>C NCBI36
NG_011811.2:g.20584A>G
NG_029183.1:g.11974T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3983A>G MANE Select ENSP00000233838.3:n.*3983A>G
ENST00000233838.8:c.*3983A>G ENSP00000233838.3:n.*3983A>G
NM_000821.5:c.*3983A>G NP_000812.2:n.*3983A>G
NM_000821.6:c.*3983A>G NP_000812.2:n.*3983A>G
NM_001142269.2:c.*3983A>G NP_001135741.1:n.*3983A>G
NM_001142269.3:c.*3983A>G NP_001135741.1:n.*3983A>G
NM_000821.7:c.*3983A>G MANE Select NP_000812.2:n.*3983A>G
NM_001142269.4:c.*3983A>G NP_001135741.1:n.*3983A>G