Canonical Allele Identifier: CA349327945

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173956018A>T , CM000664.2:g.173956018A>T	GRCh38
NC_000002.11:g.174820746A>T , CM000664.1:g.174820746A>T	GRCh37
NC_000002.10:g.174528992A>T	NCBI36
NG_029153.1:g.14685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.494T>A MANE Select	ENSP00000310301.6:p.Val165Glu
ENST00000310015.11:c.494T>A	ENSP00000310301.6:p.Val165Glu
ENST00000418194.7:c.290T>A	ENSP00000406140.3:p.Val97Glu
ENST00000650743.1:c.215T>A	ENSP00000498794.1:p.Val72Glu
ENST00000652005.2:c.290T>A	ENSP00000498392.2:p.Val97Glu
ENST00000310015.10:c.494T>A	ENSP00000310301.6:p.Val165Glu
ENST00000416195.1:c.364T>A
ENST00000418194.6:c.290T>A	ENSP00000406140.2:p.Val97Glu
ENST00000462904.1:n.334T>A
NM_001017371.4:c.290T>A	NP_001017371.3:p.Val97Glu
NM_001172712.1:c.485T>A	NP_001166183.1:p.Val162Glu
NM_003111.4:c.494T>A	NP_003102.1:p.Val165Glu
NM_001017371.5:c.290T>A	NP_001017371.3:p.Val97Glu
NM_003111.5:c.494T>A MANE Select	NP_003102.1:p.Val165Glu