Canonical Allele Identifier: CA597781076
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs1554908889
gnomAD v2: 11-13995967-A-T
MyVariant Identifiers: chr11:g.13995967A>T (hg19) chr11:g.13974420A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13974420A>T , CM000673.2:g.13974420A>T GRCh38
NC_000011.9:g.13995967A>T , CM000673.1:g.13995967A>T GRCh37
NC_000011.8:g.13952543A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.239-8427A>T MANE Select ENSP00000460236.1:n.239-8427A>T
ENST00000576479.3:c.239-8427A>T ENSP00000460236.1:n.239-8427A>T
NM_006108.3:c.239-8427A>T NP_006099.2:n.239-8427A>T
NM_006108.4:c.239-8427A>T MANE Select NP_006099.2:n.239-8427A>T
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