Canonical Allele Identifier: CA218168521
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs560676840
gnomAD v3: 11-14076896-G-A
gnomAD v4: 11-14076896-G-A
MyVariant Identifiers: chr11:g.14098443G>A (hg19) chr11:g.14076896G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14076896G>A , CM000673.2:g.14076896G>A GRCh38
NC_000011.9:g.14098443G>A , CM000673.1:g.14098443G>A GRCh37
NC_000011.8:g.14055019G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.553+1478G>A MANE Select ENSP00000460236.1:n.553+1478G>A
ENST00000576479.3:c.553+1478G>A ENSP00000460236.1:n.553+1478G>A
NM_006108.3:c.553+1478G>A NP_006099.2:n.553+1478G>A
NM_006108.4:c.553+1478G>A MANE Select NP_006099.2:n.553+1478G>A
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