Canonical Allele Identifier: CA363158069

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812922G>T , CM000668.2:g.25812922G>T	GRCh38
NC_000006.11:g.25813150G>T , CM000668.1:g.25813150G>T	GRCh37
NC_000006.10:g.25921129G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.806C>A MANE Select	ENSP00000244527.4:p.Thr269Asn
ENST00000244527.8:c.806C>A	ENSP00000244527.4:p.Thr269Asn
ENST00000377886.6:c.*57C>A	ENSP00000367118.2:n.*57C>A
ENST00000468082.1:c.735+173C>A	ENSP00000420546.1:n.735+173C>A
ENST00000476801.5:c.806C>A	ENSP00000420614.1:p.Thr269Asn
NM_005074.3:c.806C>A	NP_005065.2:p.Thr269Asn
XM_011514818.1:c.806C>A	XP_011513120.1:p.Thr269Asn
XM_011514819.1:c.719C>A	XP_011513121.1:p.Thr240Asn
XM_011514820.1:c.735+173C>A	XP_011513122.1:n.735+173C>A
XM_011514821.1:c.593C>A	XP_011513123.1:p.Thr198Asn
XM_011514818.2:c.956C>A	XP_011513120.2:p.Thr319Asn
XM_011514819.2:c.869C>A	XP_011513121.2:p.Thr290Asn
XM_011514820.2:c.885+173C>A	XP_011513122.2:n.885+173C>A
XM_011514821.2:c.593C>A	XP_011513123.1:p.Thr198Asn
XM_017011199.1:c.956C>A	XP_016866688.1:p.Thr319Asn
XM_017011200.1:c.956C>A	XP_016866689.1:p.Thr319Asn
XM_017011201.2:c.956C>A	XP_016866690.1:p.Thr319Asn
XM_017011202.1:c.872C>A	XP_016866691.1:p.Thr291Asn
NM_005074.5:c.806C>A MANE Select	NP_005065.2:p.Thr269Asn