Canonical Allele Identifier: CA1971529

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173910047C>T , CM000664.2:g.173910047C>T	GRCh38
NC_000002.11:g.174774775C>T , CM000664.1:g.174774775C>T	GRCh37
NC_000002.10:g.174483021C>T	NCBI36
NG_029153.1:g.60656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.2240G>A MANE Select	ENSP00000310301.6:p.Gly747Glu
ENST00000310015.11:c.2240G>A	ENSP00000310301.6:p.Gly747Glu
ENST00000418194.7:c.2036G>A	ENSP00000406140.3:p.Gly679Glu
ENST00000650743.1:c.1843+118G>A	ENSP00000498794.1:n.1843+118G>A
ENST00000651846.1:c.390+3023G>A
ENST00000652005.2:c.2078G>A	ENSP00000498392.2:p.Gly693Glu
ENST00000310015.10:c.2240G>A	ENSP00000310301.6:p.Gly747Glu
ENST00000416195.1:c.2110G>A
ENST00000418194.6:c.2036G>A	ENSP00000406140.2:p.Gly679Glu
ENST00000465379.1:n.3974G>A
NM_001017371.4:c.2036G>A	NP_001017371.3:p.Gly679Glu
NM_001172712.1:c.2231G>A	NP_001166183.1:p.Gly744Glu
NM_003111.4:c.2240G>A	NP_003102.1:p.Gly747Glu
NM_001017371.5:c.2036G>A	NP_001017371.3:p.Gly679Glu
NM_003111.5:c.2240G>A MANE Select	NP_003102.1:p.Gly747Glu