Canonical Allele Identifier: CA363158099

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813163A>T (hg19) ; chr6:g.25812935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812935A>T , CM000668.2:g.25812935A>T	GRCh38
NC_000006.11:g.25813163A>T , CM000668.1:g.25813163A>T	GRCh37
NC_000006.10:g.25921142A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.793T>A MANE Select	ENSP00000244527.4:p.Trp265Arg
ENST00000244527.8:c.793T>A	ENSP00000244527.4:p.Trp265Arg
ENST00000377886.6:c.*44T>A	ENSP00000367118.2:n.*44T>A
ENST00000468082.1:c.735+160T>A	ENSP00000420546.1:n.735+160T>A
ENST00000476801.5:c.793T>A	ENSP00000420614.1:p.Trp265Arg
NM_005074.3:c.793T>A	NP_005065.2:p.Trp265Arg
XM_011514818.1:c.793T>A	XP_011513120.1:p.Trp265Arg
XM_011514819.1:c.706T>A	XP_011513121.1:p.Trp236Arg
XM_011514820.1:c.735+160T>A	XP_011513122.1:n.735+160T>A
XM_011514821.1:c.580T>A	XP_011513123.1:p.Trp194Arg
XM_011514818.2:c.943T>A	XP_011513120.2:p.Trp315Arg
XM_011514819.2:c.856T>A	XP_011513121.2:p.Trp286Arg
XM_011514820.2:c.885+160T>A	XP_011513122.2:n.885+160T>A
XM_011514821.2:c.580T>A	XP_011513123.1:p.Trp194Arg
XM_017011199.1:c.943T>A	XP_016866688.1:p.Trp315Arg
XM_017011200.1:c.943T>A	XP_016866689.1:p.Trp315Arg
XM_017011201.2:c.943T>A	XP_016866690.1:p.Trp315Arg
XM_017011202.1:c.859T>A	XP_016866691.1:p.Trp287Arg
NM_005074.5:c.793T>A MANE Select	NP_005065.2:p.Trp265Arg