Canonical Allele Identifier: CA2790504949

Gene: SPON1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13974472G>A , CM000673.2:g.13974472G>A	GRCh38
NC_000011.9:g.13996019G>A , CM000673.1:g.13996019G>A	GRCh37
NC_000011.8:g.13952595G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576479.4:c.239-8375G>A MANE Select	ENSP00000460236.1:n.239-8375G>A
ENST00000576479.3:c.239-8375G>A	ENSP00000460236.1:n.239-8375G>A
NM_006108.3:c.239-8375G>A	NP_006099.2:n.239-8375G>A
NM_006108.4:c.239-8375G>A MANE Select	NP_006099.2:n.239-8375G>A