Canonical Allele Identifier: CA1971763

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173955483T>C , CM000664.2:g.173955483T>C	GRCh38
NC_000002.11:g.174820211T>C , CM000664.1:g.174820211T>C	GRCh37
NC_000002.10:g.174528457T>C	NCBI36
NG_029153.1:g.15220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.1029A>G MANE Select	ENSP00000310301.6:p.Ile343Met
ENST00000310015.11:c.1029A>G	ENSP00000310301.6:p.Ile343Met
ENST00000418194.7:c.825A>G	ENSP00000406140.3:p.Ile275Met
ENST00000650743.1:c.750A>G	ENSP00000498794.1:p.Ile250Met
ENST00000652005.2:c.825A>G	ENSP00000498392.2:p.Ile275Met
ENST00000310015.10:c.1029A>G	ENSP00000310301.6:p.Ile343Met
ENST00000416195.1:c.899A>G
ENST00000418194.6:c.825A>G	ENSP00000406140.2:p.Ile275Met
NM_001017371.4:c.825A>G	NP_001017371.3:p.Ile275Met
NM_001172712.1:c.1020A>G	NP_001166183.1:p.Ile340Met
NM_003111.4:c.1029A>G	NP_003102.1:p.Ile343Met
NM_001017371.5:c.825A>G	NP_001017371.3:p.Ile275Met
NM_003111.5:c.1029A>G MANE Select	NP_003102.1:p.Ile343Met