Canonical Allele Identifier: CA2790504959
Gene: SPON1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13974593G>T , CM000673.2:g.13974593G>T GRCh38
NC_000011.9:g.13996140G>T , CM000673.1:g.13996140G>T GRCh37
NC_000011.8:g.13952716G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.239-8254G>T MANE Select ENSP00000460236.1:n.239-8254G>T
ENST00000576479.3:c.239-8254G>T ENSP00000460236.1:n.239-8254G>T
NM_006108.3:c.239-8254G>T NP_006099.2:n.239-8254G>T
NM_006108.4:c.239-8254G>T MANE Select NP_006099.2:n.239-8254G>T
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