Canonical Allele Identifier: CA673918886
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs1260083082
gnomAD v3: 11-14076863-C-A
gnomAD v4: 11-14076863-C-A
MyVariant Identifiers: chr11:g.14076863C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14076863C>A , CM000673.2:g.14076863C>A GRCh38
NC_000011.9:g.14098410C>A , CM000673.1:g.14098410C>A GRCh37
NC_000011.8:g.14054986C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000576479.4:c.553+1445C>A MANE Select ENSP00000460236.1:n.553+1445C>A
ENST00000576479.3:c.553+1445C>A ENSP00000460236.1:n.553+1445C>A
NM_006108.3:c.553+1445C>A NP_006099.2:n.553+1445C>A
NM_006108.4:c.553+1445C>A MANE Select NP_006099.2:n.553+1445C>A
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