Canonical Allele Identifier: CA363158266

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1764212057
• gnomAD v4: 6-25812985-G-A
• MyVariant Identifiers: chr6:g.25813213G>A (hg19) ; chr6:g.25812985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812985G>A , CM000668.2:g.25812985G>A	GRCh38
NC_000006.11:g.25813213G>A , CM000668.1:g.25813213G>A	GRCh37
NC_000006.10:g.25921192G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.743C>T MANE Select	ENSP00000244527.4:p.Ser248Leu
ENST00000244527.8:c.743C>T	ENSP00000244527.4:p.Ser248Leu
ENST00000377886.6:c.624C>T	ENSP00000367118.2:p.Phe208=
ENST00000468082.1:c.735+110C>T	ENSP00000420546.1:n.735+110C>T
ENST00000476801.5:c.743C>T	ENSP00000420614.1:p.Ser248Leu
NM_005074.3:c.743C>T	NP_005065.2:p.Ser248Leu
XM_011514818.1:c.743C>T	XP_011513120.1:p.Ser248Leu
XM_011514819.1:c.656C>T	XP_011513121.1:p.Ser219Leu
XM_011514820.1:c.735+110C>T	XP_011513122.1:n.735+110C>T
XM_011514821.1:c.530C>T	XP_011513123.1:p.Ser177Leu
XM_011514818.2:c.893C>T	XP_011513120.2:p.Ser298Leu
XM_011514819.2:c.806C>T	XP_011513121.2:p.Ser269Leu
XM_011514820.2:c.885+110C>T	XP_011513122.2:n.885+110C>T
XM_011514821.2:c.530C>T	XP_011513123.1:p.Ser177Leu
XM_017011199.1:c.893C>T	XP_016866688.1:p.Ser298Leu
XM_017011200.1:c.893C>T	XP_016866689.1:p.Ser298Leu
XM_017011201.2:c.893C>T	XP_016866690.1:p.Ser298Leu
XM_017011202.1:c.809C>T	XP_016866691.1:p.Ser270Leu
NM_005074.5:c.743C>T MANE Select	NP_005065.2:p.Ser248Leu