Canonical Allele Identifier: CA1953569759
Gene: SPON1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14000092T>G , CM000673.2:g.14000092T>G GRCh38
NC_000011.9:g.14021639T>G , CM000673.1:g.14021639T>G GRCh37
NC_000011.8:g.13978215T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.345+17139T>G MANE Select ENSP00000460236.1:n.345+17139T>G
ENST00000576479.3:c.345+17139T>G ENSP00000460236.1:n.345+17139T>G
NM_006108.3:c.345+17139T>G NP_006099.2:n.345+17139T>G
NM_006108.4:c.345+17139T>G MANE Select NP_006099.2:n.345+17139T>G