Canonical Allele Identifier: CA2790504966
Gene: SPON1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13974640T>C , CM000673.2:g.13974640T>C GRCh38
NC_000011.9:g.13996187T>C , CM000673.1:g.13996187T>C GRCh37
NC_000011.8:g.13952763T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.239-8207T>C MANE Select ENSP00000460236.1:n.239-8207T>C
ENST00000576479.3:c.239-8207T>C ENSP00000460236.1:n.239-8207T>C
NM_006108.3:c.239-8207T>C NP_006099.2:n.239-8207T>C
NM_006108.4:c.239-8207T>C MANE Select NP_006099.2:n.239-8207T>C