Canonical Allele Identifier: CA1033077609
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691631430
gnomAD v3: 2-85545774-A-G
gnomAD v4: 2-85545774-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85545774A>G , CM000664.2:g.85545774A>G GRCh38
NC_000002.11:g.85772897A>G , CM000664.1:g.85772897A>G GRCh37
NC_000002.10:g.85626408A>G NCBI36
NG_011811.2:g.20761T>C
NG_029183.1:g.11797A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*4160T>C MANE Select ENSP00000233838.3:n.*4160T>C
ENST00000233838.8:c.*4160T>C ENSP00000233838.3:n.*4160T>C
NM_000821.5:c.*4160T>C NP_000812.2:n.*4160T>C
NM_000821.6:c.*4160T>C NP_000812.2:n.*4160T>C
NM_001142269.2:c.*4160T>C NP_001135741.1:n.*4160T>C
NM_001142269.3:c.*4160T>C NP_001135741.1:n.*4160T>C
NM_000821.7:c.*4160T>C MANE Select NP_000812.2:n.*4160T>C
NM_001142269.4:c.*4160T>C NP_001135741.1:n.*4160T>C