Canonical Allele Identifier: CA363158278

Gene: SLC17A1

Linked Data

• gnomAD v4: 6-25812988-C-T
• MyVariant Identifiers: chr6:g.25813216C>T (hg19) ; chr6:g.25812988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812988C>T , CM000668.2:g.25812988C>T	GRCh38
NC_000006.11:g.25813216C>T , CM000668.1:g.25813216C>T	GRCh37
NC_000006.10:g.25921195C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.740G>A MANE Select	ENSP00000244527.4:p.Ser247Asn
ENST00000244527.8:c.740G>A	ENSP00000244527.4:p.Ser247Asn
ENST00000377886.6:c.621G>A	ENSP00000367118.2:p.Gln207=
ENST00000468082.1:c.735+107G>A	ENSP00000420546.1:n.735+107G>A
ENST00000476801.5:c.740G>A	ENSP00000420614.1:p.Ser247Asn
NM_005074.3:c.740G>A	NP_005065.2:p.Ser247Asn
XM_011514818.1:c.740G>A	XP_011513120.1:p.Ser247Asn
XM_011514819.1:c.653G>A	XP_011513121.1:p.Ser218Asn
XM_011514820.1:c.735+107G>A	XP_011513122.1:n.735+107G>A
XM_011514821.1:c.527G>A	XP_011513123.1:p.Ser176Asn
XM_011514818.2:c.890G>A	XP_011513120.2:p.Ser297Asn
XM_011514819.2:c.803G>A	XP_011513121.2:p.Ser268Asn
XM_011514820.2:c.885+107G>A	XP_011513122.2:n.885+107G>A
XM_011514821.2:c.527G>A	XP_011513123.1:p.Ser176Asn
XM_017011199.1:c.890G>A	XP_016866688.1:p.Ser297Asn
XM_017011200.1:c.890G>A	XP_016866689.1:p.Ser297Asn
XM_017011201.2:c.890G>A	XP_016866690.1:p.Ser297Asn
XM_017011202.1:c.806G>A	XP_016866691.1:p.Ser269Asn
NM_005074.5:c.740G>A MANE Select	NP_005065.2:p.Ser247Asn