Canonical Allele Identifier: CA363158227

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1764211445
• gnomAD v3: 6-25812974-A-G
• gnomAD v4: 6-25812974-A-G
• MyVariant Identifiers: chr6:g.25813202A>G (hg19) ; chr6:g.25812974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812974A>G , CM000668.2:g.25812974A>G	GRCh38
NC_000006.11:g.25813202A>G , CM000668.1:g.25813202A>G	GRCh37
NC_000006.10:g.25921181A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.754T>C MANE Select	ENSP00000244527.4:p.Ser252Pro
ENST00000244527.8:c.754T>C	ENSP00000244527.4:p.Ser252Pro
ENST00000377886.6:c.*5T>C	ENSP00000367118.2:n.*5T>C
ENST00000468082.1:c.735+121T>C	ENSP00000420546.1:n.735+121T>C
ENST00000476801.5:c.754T>C	ENSP00000420614.1:p.Ser252Pro
NM_005074.3:c.754T>C	NP_005065.2:p.Ser252Pro
XM_011514818.1:c.754T>C	XP_011513120.1:p.Ser252Pro
XM_011514819.1:c.667T>C	XP_011513121.1:p.Ser223Pro
XM_011514820.1:c.735+121T>C	XP_011513122.1:n.735+121T>C
XM_011514821.1:c.541T>C	XP_011513123.1:p.Ser181Pro
XM_011514818.2:c.904T>C	XP_011513120.2:p.Ser302Pro
XM_011514819.2:c.817T>C	XP_011513121.2:p.Ser273Pro
XM_011514820.2:c.885+121T>C	XP_011513122.2:n.885+121T>C
XM_011514821.2:c.541T>C	XP_011513123.1:p.Ser181Pro
XM_017011199.1:c.904T>C	XP_016866688.1:p.Ser302Pro
XM_017011200.1:c.904T>C	XP_016866689.1:p.Ser302Pro
XM_017011201.2:c.904T>C	XP_016866690.1:p.Ser302Pro
XM_017011202.1:c.820T>C	XP_016866691.1:p.Ser274Pro
NM_005074.5:c.754T>C MANE Select	NP_005065.2:p.Ser252Pro