Canonical Allele Identifier: CA349684768

Gene: SP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173910061T>G , CM000664.2:g.173910061T>G	GRCh38
NC_000002.11:g.174774789T>G , CM000664.1:g.174774789T>G	GRCh37
NC_000002.10:g.174483035T>G	NCBI36
NG_029153.1:g.60642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310015.12:c.2226A>C MANE Select	ENSP00000310301.6:p.Gln742His
ENST00000310015.11:c.2226A>C	ENSP00000310301.6:p.Gln742His
ENST00000418194.7:c.2022A>C	ENSP00000406140.3:p.Gln674His
ENST00000650743.1:c.1843+104A>C	ENSP00000498794.1:n.1843+104A>C
ENST00000651846.1:c.390+3009A>C
ENST00000652005.2:c.2064A>C	ENSP00000498392.2:p.Gln688His
ENST00000310015.10:c.2226A>C	ENSP00000310301.6:p.Gln742His
ENST00000416195.1:c.2096A>C
ENST00000418194.6:c.2022A>C	ENSP00000406140.2:p.Gln674His
ENST00000465379.1:n.3960A>C
NM_001017371.4:c.2022A>C	NP_001017371.3:p.Gln674His
NM_001172712.1:c.2217A>C	NP_001166183.1:p.Gln739His
NM_003111.4:c.2226A>C	NP_003102.1:p.Gln742His
NM_001017371.5:c.2022A>C	NP_001017371.3:p.Gln674His
NM_003111.5:c.2226A>C MANE Select	NP_003102.1:p.Gln742His