Canonical Allele Identifier: CA3662608

Gene: SLC17A1

Linked Data

• dbSNP Id: rs747920613
• ExAC: 6:25813207 C / G
• gnomAD v2: 6-25813207-C-G
• MyVariant Identifiers: chr6:g.25813207C>G (hg19) ; chr6:g.25812979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812979C>G , CM000668.2:g.25812979C>G	GRCh38
NC_000006.11:g.25813207C>G , CM000668.1:g.25813207C>G	GRCh37
NC_000006.10:g.25921186C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.749G>C MANE Select	ENSP00000244527.4:p.Arg250Thr
ENST00000244527.8:c.749G>C	ENSP00000244527.4:p.Arg250Thr
ENST00000377886.6:c.630G>C	ENSP00000367118.2:p.Ter210Tyr
ENST00000468082.1:c.735+116G>C	ENSP00000420546.1:n.735+116G>C
ENST00000476801.5:c.749G>C	ENSP00000420614.1:p.Arg250Thr
NM_005074.3:c.749G>C	NP_005065.2:p.Arg250Thr
XM_011514818.1:c.749G>C	XP_011513120.1:p.Arg250Thr
XM_011514819.1:c.662G>C	XP_011513121.1:p.Arg221Thr
XM_011514820.1:c.735+116G>C	XP_011513122.1:n.735+116G>C
XM_011514821.1:c.536G>C	XP_011513123.1:p.Arg179Thr
XM_011514818.2:c.899G>C	XP_011513120.2:p.Arg300Thr
XM_011514819.2:c.812G>C	XP_011513121.2:p.Arg271Thr
XM_011514820.2:c.885+116G>C	XP_011513122.2:n.885+116G>C
XM_011514821.2:c.536G>C	XP_011513123.1:p.Arg179Thr
XM_017011199.1:c.899G>C	XP_016866688.1:p.Arg300Thr
XM_017011200.1:c.899G>C	XP_016866689.1:p.Arg300Thr
XM_017011201.2:c.899G>C	XP_016866690.1:p.Arg300Thr
XM_017011202.1:c.815G>C	XP_016866691.1:p.Arg272Thr
NM_005074.5:c.749G>C MANE Select	NP_005065.2:p.Arg250Thr