Canonical Allele Identifier: CA363158160

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813183A>G (hg19) ; chr6:g.25812955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812955A>G , CM000668.2:g.25812955A>G	GRCh38
NC_000006.11:g.25813183A>G , CM000668.1:g.25813183A>G	GRCh37
NC_000006.10:g.25921162A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.773T>C MANE Select	ENSP00000244527.4:p.Ile258Thr
ENST00000244527.8:c.773T>C	ENSP00000244527.4:p.Ile258Thr
ENST00000377886.6:c.*24T>C	ENSP00000367118.2:n.*24T>C
ENST00000468082.1:c.735+140T>C	ENSP00000420546.1:n.735+140T>C
ENST00000476801.5:c.773T>C	ENSP00000420614.1:p.Ile258Thr
NM_005074.3:c.773T>C	NP_005065.2:p.Ile258Thr
XM_011514818.1:c.773T>C	XP_011513120.1:p.Ile258Thr
XM_011514819.1:c.686T>C	XP_011513121.1:p.Ile229Thr
XM_011514820.1:c.735+140T>C	XP_011513122.1:n.735+140T>C
XM_011514821.1:c.560T>C	XP_011513123.1:p.Ile187Thr
XM_011514818.2:c.923T>C	XP_011513120.2:p.Ile308Thr
XM_011514819.2:c.836T>C	XP_011513121.2:p.Ile279Thr
XM_011514820.2:c.885+140T>C	XP_011513122.2:n.885+140T>C
XM_011514821.2:c.560T>C	XP_011513123.1:p.Ile187Thr
XM_017011199.1:c.923T>C	XP_016866688.1:p.Ile308Thr
XM_017011200.1:c.923T>C	XP_016866689.1:p.Ile308Thr
XM_017011201.2:c.923T>C	XP_016866690.1:p.Ile308Thr
XM_017011202.1:c.839T>C	XP_016866691.1:p.Ile280Thr
NM_005074.5:c.773T>C MANE Select	NP_005065.2:p.Ile258Thr