Canonical Allele Identifier: CA894034258
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1459026067
gnomAD v3: 2-85545862-T-G
gnomAD v4: 2-85545862-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85545862T>G , CM000664.2:g.85545862T>G GRCh38
NC_000002.11:g.85772985T>G , CM000664.1:g.85772985T>G GRCh37
NC_000002.10:g.85626496T>G NCBI36
NG_011811.2:g.20673A>C
NG_029183.1:g.11885T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*4072A>C MANE Select ENSP00000233838.3:n.*4072A>C
ENST00000233838.8:c.*4072A>C ENSP00000233838.3:n.*4072A>C
NM_000821.5:c.*4072A>C NP_000812.2:n.*4072A>C
NM_000821.6:c.*4072A>C NP_000812.2:n.*4072A>C
NM_001142269.2:c.*4072A>C NP_001135741.1:n.*4072A>C
NM_001142269.3:c.*4072A>C NP_001135741.1:n.*4072A>C
NM_000821.7:c.*4072A>C MANE Select NP_000812.2:n.*4072A>C
NM_001142269.4:c.*4072A>C NP_001135741.1:n.*4072A>C