Canonical Allele Identifier: CA1616755298
Gene: SLC17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787796C= , CM000668.2:g.25787796C= GRCh38
NC_000006.11:g.25788024C= , CM000668.1:g.25788024C= GRCh37
NC_000006.10:g.25896003C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*3-4578G= MANE Select ENSP00000244527.4:n.*3-4578G=
ENST00000244527.8:c.*3-4578G= ENSP00000244527.4:n.*3-4578G=
ENST00000377886.6:c.*658-4578G= ENSP00000367118.2:n.*658-4578G=
NM_005074.3:c.*3-4578G= NP_005065.2:n.*3-4578G=
XM_011514818.1:c.1179-4578G= XP_011513120.1:n.1179-4578G=
XM_011514818.2:c.1329-4578G= XP_011513120.2:n.1329-4578G=
XM_017011200.1:c.*3-4578G= XP_016866689.1:n.*3-4578G=
XM_017011201.2:c.*2+10987G= XP_016866690.1:n.*2+10987G=
NM_005074.5:c.*3-4578G= MANE Select NP_005065.2:n.*3-4578G=