Canonical Allele Identifier: CA349329062

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173956166G>C , CM000664.2:g.173956166G>C	GRCh38
NC_000002.11:g.174820894G>C , CM000664.1:g.174820894G>C	GRCh37
NC_000002.10:g.174529140G>C	NCBI36
NG_029153.1:g.14537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.346C>G MANE Select	ENSP00000310301.6:p.Pro116Ala
ENST00000310015.11:c.346C>G	ENSP00000310301.6:p.Pro116Ala
ENST00000418194.7:c.142C>G	ENSP00000406140.3:p.Pro48Ala
ENST00000650743.1:c.67C>G	ENSP00000498794.1:p.Pro23Ala
ENST00000652005.2:c.142C>G	ENSP00000498392.2:p.Pro48Ala
ENST00000310015.10:c.346C>G	ENSP00000310301.6:p.Pro116Ala
ENST00000416195.1:c.216C>G
ENST00000418194.6:c.142C>G	ENSP00000406140.2:p.Pro48Ala
ENST00000462904.1:n.186C>G
ENST00000483084.1:n.475C>G
ENST00000490182.1:n.374C>G
NM_001017371.4:c.142C>G	NP_001017371.3:p.Pro48Ala
NM_001172712.1:c.337C>G	NP_001166183.1:p.Pro113Ala
NM_003111.4:c.346C>G	NP_003102.1:p.Pro116Ala
NM_001017371.5:c.142C>G	NP_001017371.3:p.Pro48Ala
NM_003111.5:c.346C>G MANE Select	NP_003102.1:p.Pro116Ala