Canonical Allele Identifier: CA1266822724
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691754062
gnomAD v3: 2-85547870-A-G
gnomAD v4: 2-85547870-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85547870A>G , CM000664.2:g.85547870A>G GRCh38
NC_000002.11:g.85774993A>G , CM000664.1:g.85774993A>G GRCh37
NC_000002.10:g.85628504A>G NCBI36
NG_011811.2:g.18665T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*2064T>C MANE Select ENSP00000233838.3:n.*2064T>C
ENST00000233838.8:c.*2064T>C ENSP00000233838.3:n.*2064T>C
ENST00000465637.5:n.313T>C
NM_000821.5:c.*2064T>C NP_000812.2:n.*2064T>C
NM_000821.6:c.*2064T>C NP_000812.2:n.*2064T>C
NM_001142269.2:c.*2064T>C NP_001135741.1:n.*2064T>C
NM_001142269.3:c.*2064T>C NP_001135741.1:n.*2064T>C
NM_000821.7:c.*2064T>C MANE Select NP_000812.2:n.*2064T>C
NM_001142269.4:c.*2064T>C NP_001135741.1:n.*2064T>C
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