Canonical Allele Identifier: CA645552928
Gene: SLC17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25812822T>A , CM000668.2:g.25812822T>A GRCh38
NC_000006.11:g.25813050T>A , CM000668.1:g.25813050T>A GRCh37
NC_000006.10:g.25921029T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.897+9A>T MANE Select ENSP00000244527.4:n.897+9A>T
ENST00000244527.8:c.897+9A>T ENSP00000244527.4:n.897+9A>T
ENST00000377886.6:c.*148+9A>T ENSP00000367118.2:n.*148+9A>T
ENST00000468082.1:c.735+273A>T ENSP00000420546.1:n.735+273A>T
ENST00000476801.5:c.897+9A>T ENSP00000420614.1:n.897+9A>T
NM_005074.3:c.897+9A>T NP_005065.2:n.897+9A>T
XM_011514818.1:c.897+9A>T XP_011513120.1:n.897+9A>T
XM_011514819.1:c.810+9A>T XP_011513121.1:n.810+9A>T
XM_011514820.1:c.735+273A>T XP_011513122.1:n.735+273A>T
XM_011514821.1:c.684+9A>T XP_011513123.1:n.684+9A>T
XM_011514818.2:c.1047+9A>T XP_011513120.2:n.1047+9A>T
XM_011514819.2:c.960+9A>T XP_011513121.2:n.960+9A>T
XM_011514820.2:c.885+273A>T XP_011513122.2:n.885+273A>T
XM_011514821.2:c.684+9A>T XP_011513123.1:n.684+9A>T
XM_017011199.1:c.1047+9A>T XP_016866688.1:n.1047+9A>T
XM_017011200.1:c.1047+9A>T XP_016866689.1:n.1047+9A>T
XM_017011201.2:c.1047+9A>T XP_016866690.1:n.1047+9A>T
XM_017011202.1:c.963+9A>T XP_016866691.1:n.963+9A>T
NM_005074.5:c.897+9A>T MANE Select NP_005065.2:n.897+9A>T