Canonical Allele Identifier: CA1616770090
Gene: SLC17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25823216A>G , CM000668.2:g.25823216A>G GRCh38
NC_000006.11:g.25823444A>G , CM000668.1:g.25823444A>G GRCh37
NC_000006.10:g.25931423A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.207+3245T>C MANE Select ENSP00000244527.4:n.207+3245T>C
ENST00000244527.8:c.207+3245T>C ENSP00000244527.4:n.207+3245T>C
ENST00000377886.6:c.207+3245T>C ENSP00000367118.2:n.207+3245T>C
ENST00000468082.1:c.207+3245T>C ENSP00000420546.1:n.207+3245T>C
ENST00000476801.5:c.207+3245T>C ENSP00000420614.1:n.207+3245T>C
NM_005074.3:c.207+3245T>C NP_005065.2:n.207+3245T>C
XM_011514818.1:c.207+3245T>C XP_011513120.1:n.207+3245T>C
XM_011514819.1:c.207+3245T>C XP_011513121.1:n.207+3245T>C
XM_011514820.1:c.207+3245T>C XP_011513122.1:n.207+3245T>C
XM_011514821.1:c.-6-3301T>C XP_011513123.1:n.-6-3301T>C
XM_011514818.2:c.357+3245T>C XP_011513120.2:n.357+3245T>C
XM_011514819.2:c.357+3245T>C XP_011513121.2:n.357+3245T>C
XM_011514820.2:c.357+3245T>C XP_011513122.2:n.357+3245T>C
XM_011514821.2:c.-6-3301T>C XP_011513123.1:n.-6-3301T>C
XM_017011199.1:c.357+3245T>C XP_016866688.1:n.357+3245T>C
XM_017011200.1:c.357+3245T>C XP_016866689.1:n.357+3245T>C
XM_017011201.2:c.357+3245T>C XP_016866690.1:n.357+3245T>C
XM_017011202.1:c.273+3245T>C XP_016866691.1:n.273+3245T>C
NM_005074.5:c.207+3245T>C MANE Select NP_005065.2:n.207+3245T>C