Canonical Allele Identifier: CA363158068

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1165196
• MyVariant Identifiers: chr6:g.25813150G>C (hg19) ; chr6:g.25812922G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000244527.10:c.806C>G MANE Select	ENSP00000244527.4:p.Thr269Ser
ENST00000244527.8:c.806C>G	ENSP00000244527.4:p.Thr269Ser
ENST00000377886.6:c.*57C>G	ENSP00000367118.2:n.*57C>G
ENST00000468082.1:c.735+173C>G	ENSP00000420546.1:n.735+173C>G
ENST00000476801.5:c.806C>G	ENSP00000420614.1:p.Thr269Ser
NM_005074.3:c.806C>G	NP_005065.2:p.Thr269Ser
XM_011514818.1:c.806C>G	XP_011513120.1:p.Thr269Ser
XM_011514819.1:c.719C>G	XP_011513121.1:p.Thr240Ser
XM_011514820.1:c.735+173C>G	XP_011513122.1:n.735+173C>G
XM_011514821.1:c.593C>G	XP_011513123.1:p.Thr198Ser
XM_011514818.2:c.956C>G	XP_011513120.2:p.Thr319Ser
XM_011514819.2:c.869C>G	XP_011513121.2:p.Thr290Ser
XM_011514820.2:c.885+173C>G	XP_011513122.2:n.885+173C>G
XM_011514821.2:c.593C>G	XP_011513123.1:p.Thr198Ser
XM_017011199.1:c.956C>G	XP_016866688.1:p.Thr319Ser
XM_017011200.1:c.956C>G	XP_016866689.1:p.Thr319Ser
XM_017011201.2:c.956C>G	XP_016866690.1:p.Thr319Ser
XM_017011202.1:c.872C>G	XP_016866691.1:p.Thr291Ser
NM_005074.5:c.806C>G MANE Select	NP_005065.2:p.Thr269Ser