Canonical Allele Identifier: CA1971847

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173956022T>C , CM000664.2:g.173956022T>C	GRCh38
NC_000002.11:g.174820750T>C , CM000664.1:g.174820750T>C	GRCh37
NC_000002.10:g.174528996T>C	NCBI36
NG_029153.1:g.14681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.490A>G MANE Select	ENSP00000310301.6:p.Thr164Ala
ENST00000310015.11:c.490A>G	ENSP00000310301.6:p.Thr164Ala
ENST00000418194.7:c.286A>G	ENSP00000406140.3:p.Thr96Ala
ENST00000650743.1:c.211A>G	ENSP00000498794.1:p.Thr71Ala
ENST00000652005.2:c.286A>G	ENSP00000498392.2:p.Thr96Ala
ENST00000310015.10:c.490A>G	ENSP00000310301.6:p.Thr164Ala
ENST00000416195.1:c.360A>G
ENST00000418194.6:c.286A>G	ENSP00000406140.2:p.Thr96Ala
ENST00000462904.1:n.330A>G
NM_001017371.4:c.286A>G	NP_001017371.3:p.Thr96Ala
NM_001172712.1:c.481A>G	NP_001166183.1:p.Thr161Ala
NM_003111.4:c.490A>G	NP_003102.1:p.Thr164Ala
NM_001017371.5:c.286A>G	NP_001017371.3:p.Thr96Ala
NM_003111.5:c.490A>G MANE Select	NP_003102.1:p.Thr164Ala