Canonical Allele Identifier: CA448980396

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813185A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812957A>T , CM000668.2:g.25812957A>T	GRCh38
NC_000006.11:g.25813185A>T , CM000668.1:g.25813185A>T	GRCh37
NC_000006.10:g.25921164A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.771T>A MANE Select	ENSP00000244527.4:p.Ala257=
ENST00000244527.8:c.771T>A	ENSP00000244527.4:p.Ala257=
ENST00000377886.6:c.*22T>A	ENSP00000367118.2:n.*22T>A
ENST00000468082.1:c.735+138T>A	ENSP00000420546.1:n.735+138T>A
ENST00000476801.5:c.771T>A	ENSP00000420614.1:p.Ala257=
NM_005074.3:c.771T>A	NP_005065.2:p.Ala257=
XM_011514818.1:c.771T>A	XP_011513120.1:p.Ala257=
XM_011514819.1:c.684T>A	XP_011513121.1:p.Ala228=
XM_011514820.1:c.735+138T>A	XP_011513122.1:n.735+138T>A
XM_011514821.1:c.558T>A	XP_011513123.1:p.Ala186=
XM_011514818.2:c.921T>A	XP_011513120.2:p.Ala307=
XM_011514819.2:c.834T>A	XP_011513121.2:p.Ala278=
XM_011514820.2:c.885+138T>A	XP_011513122.2:n.885+138T>A
XM_011514821.2:c.558T>A	XP_011513123.1:p.Ala186=
XM_017011199.1:c.921T>A	XP_016866688.1:p.Ala307=
XM_017011200.1:c.921T>A	XP_016866689.1:p.Ala307=
XM_017011201.2:c.921T>A	XP_016866690.1:p.Ala307=
XM_017011202.1:c.837T>A	XP_016866691.1:p.Ala279=
NM_005074.5:c.771T>A MANE Select	NP_005065.2:p.Ala257=