Canonical Allele Identifier: CA363158237

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813205G>T (hg19) ; chr6:g.25812977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812977G>T , CM000668.2:g.25812977G>T	GRCh38
NC_000006.11:g.25813205G>T , CM000668.1:g.25813205G>T	GRCh37
NC_000006.10:g.25921184G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.751C>A MANE Select	ENSP00000244527.4:p.Gln251Lys
ENST00000244527.8:c.751C>A	ENSP00000244527.4:p.Gln251Lys
ENST00000377886.6:c.*2C>A	ENSP00000367118.2:n.*2C>A
ENST00000468082.1:c.735+118C>A	ENSP00000420546.1:n.735+118C>A
ENST00000476801.5:c.751C>A	ENSP00000420614.1:p.Gln251Lys
NM_005074.3:c.751C>A	NP_005065.2:p.Gln251Lys
XM_011514818.1:c.751C>A	XP_011513120.1:p.Gln251Lys
XM_011514819.1:c.664C>A	XP_011513121.1:p.Gln222Lys
XM_011514820.1:c.735+118C>A	XP_011513122.1:n.735+118C>A
XM_011514821.1:c.538C>A	XP_011513123.1:p.Gln180Lys
XM_011514818.2:c.901C>A	XP_011513120.2:p.Gln301Lys
XM_011514819.2:c.814C>A	XP_011513121.2:p.Gln272Lys
XM_011514820.2:c.885+118C>A	XP_011513122.2:n.885+118C>A
XM_011514821.2:c.538C>A	XP_011513123.1:p.Gln180Lys
XM_017011199.1:c.901C>A	XP_016866688.1:p.Gln301Lys
XM_017011200.1:c.901C>A	XP_016866689.1:p.Gln301Lys
XM_017011201.2:c.901C>A	XP_016866690.1:p.Gln301Lys
XM_017011202.1:c.817C>A	XP_016866691.1:p.Gln273Lys
NM_005074.5:c.751C>A MANE Select	NP_005065.2:p.Gln251Lys