Canonical Allele Identifier: CA1033077982
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691663154
gnomAD v3: 2-85546337-G-A
gnomAD v4: 2-85546337-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546337G>A , CM000664.2:g.85546337G>A GRCh38
NC_000002.11:g.85773460G>A , CM000664.1:g.85773460G>A GRCh37
NC_000002.10:g.85626971G>A NCBI36
NG_011811.2:g.20198C>T
NG_029183.1:g.12360G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3597C>T MANE Select ENSP00000233838.3:n.*3597C>T
ENST00000233838.8:c.*3597C>T ENSP00000233838.3:n.*3597C>T
NM_000821.5:c.*3597C>T NP_000812.2:n.*3597C>T
NM_000821.6:c.*3597C>T NP_000812.2:n.*3597C>T
NM_001142269.2:c.*3597C>T NP_001135741.1:n.*3597C>T
NM_001142269.3:c.*3597C>T NP_001135741.1:n.*3597C>T
NM_000821.7:c.*3597C>T MANE Select NP_000812.2:n.*3597C>T
NM_001142269.4:c.*3597C>T NP_001135741.1:n.*3597C>T