Canonical Allele Identifier: CA3662596

Gene: SLC17A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.806C>T MANE Select	ENSP00000244527.4:p.Thr269Ile
ENST00000244527.8:c.806C>T	ENSP00000244527.4:p.Thr269Ile
ENST00000377886.6:c.*57C>T	ENSP00000367118.2:n.*57C>T
ENST00000468082.1:c.735+173C>T	ENSP00000420546.1:n.735+173C>T
ENST00000476801.5:c.806C>T	ENSP00000420614.1:p.Thr269Ile
NM_005074.3:c.806C>T	NP_005065.2:p.Thr269Ile
XM_011514818.1:c.806C>T	XP_011513120.1:p.Thr269Ile
XM_011514819.1:c.719C>T	XP_011513121.1:p.Thr240Ile
XM_011514820.1:c.735+173C>T	XP_011513122.1:n.735+173C>T
XM_011514821.1:c.593C>T	XP_011513123.1:p.Thr198Ile
XM_011514818.2:c.956C>T	XP_011513120.2:p.Thr319Ile
XM_011514819.2:c.869C>T	XP_011513121.2:p.Thr290Ile
XM_011514820.2:c.885+173C>T	XP_011513122.2:n.885+173C>T
XM_011514821.2:c.593C>T	XP_011513123.1:p.Thr198Ile
XM_017011199.1:c.956C>T	XP_016866688.1:p.Thr319Ile
XM_017011200.1:c.956C>T	XP_016866689.1:p.Thr319Ile
XM_017011201.2:c.956C>T	XP_016866690.1:p.Thr319Ile
XM_017011202.1:c.872C>T	XP_016866691.1:p.Thr291Ile
NM_005074.5:c.806C>T MANE Select	NP_005065.2:p.Thr269Ile