Canonical Allele Identifier: CA653967600
Gene: SPON1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14076979A>C , CM000673.2:g.14076979A>C GRCh38
NC_000011.9:g.14098526A>C , CM000673.1:g.14098526A>C GRCh37
NC_000011.8:g.14055102A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.553+1561A>C MANE Select ENSP00000460236.1:n.553+1561A>C
ENST00000576479.3:c.553+1561A>C ENSP00000460236.1:n.553+1561A>C
NM_006108.3:c.553+1561A>C NP_006099.2:n.553+1561A>C
NM_006108.4:c.553+1561A>C MANE Select NP_006099.2:n.553+1561A>C