Canonical Allele Identifier: CA3662587

Gene: SLC17A1

Linked Data

• dbSNP Id: rs768289486
• ExAC: 6:25813108 A / C
• gnomAD v2: 6-25813108-A-C
• gnomAD v4: 6-25812880-A-C
• MyVariant Identifiers: chr6:g.25813108A>C (hg19) ; chr6:g.25812880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812880A>C , CM000668.2:g.25812880A>C	GRCh38
NC_000006.11:g.25813108A>C , CM000668.1:g.25813108A>C	GRCh37
NC_000006.10:g.25921087A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.848T>G MANE Select	ENSP00000244527.4:p.Leu283Arg
ENST00000244527.8:c.848T>G	ENSP00000244527.4:p.Leu283Arg
ENST00000377886.6:c.*99T>G	ENSP00000367118.2:n.*99T>G
ENST00000468082.1:c.735+215T>G	ENSP00000420546.1:n.735+215T>G
ENST00000476801.5:c.848T>G	ENSP00000420614.1:p.Leu283Arg
NM_005074.3:c.848T>G	NP_005065.2:p.Leu283Arg
XM_011514818.1:c.848T>G	XP_011513120.1:p.Leu283Arg
XM_011514819.1:c.761T>G	XP_011513121.1:p.Leu254Arg
XM_011514820.1:c.735+215T>G	XP_011513122.1:n.735+215T>G
XM_011514821.1:c.635T>G	XP_011513123.1:p.Leu212Arg
XM_011514818.2:c.998T>G	XP_011513120.2:p.Leu333Arg
XM_011514819.2:c.911T>G	XP_011513121.2:p.Leu304Arg
XM_011514820.2:c.885+215T>G	XP_011513122.2:n.885+215T>G
XM_011514821.2:c.635T>G	XP_011513123.1:p.Leu212Arg
XM_017011199.1:c.998T>G	XP_016866688.1:p.Leu333Arg
XM_017011200.1:c.998T>G	XP_016866689.1:p.Leu333Arg
XM_017011201.2:c.998T>G	XP_016866690.1:p.Leu333Arg
XM_017011202.1:c.914T>G	XP_016866691.1:p.Leu305Arg
NM_005074.5:c.848T>G MANE Select	NP_005065.2:p.Leu283Arg