Canonical Allele Identifier: CA1616755283
Gene: SLC17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787748A= , CM000668.2:g.25787748A= GRCh38
NC_000006.11:g.25787976A= , CM000668.1:g.25787976A= GRCh37
NC_000006.10:g.25895955A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*3-4530T= MANE Select ENSP00000244527.4:n.*3-4530T=
ENST00000244527.8:c.*3-4530T= ENSP00000244527.4:n.*3-4530T=
ENST00000377886.6:c.*658-4530T= ENSP00000367118.2:n.*658-4530T=
NM_005074.3:c.*3-4530T= NP_005065.2:n.*3-4530T=
XM_011514818.1:c.1179-4530T= XP_011513120.1:n.1179-4530T=
XM_011514818.2:c.1329-4530T= XP_011513120.2:n.1329-4530T=
XM_017011200.1:c.*3-4530T= XP_016866689.1:n.*3-4530T=
XM_017011201.2:c.*2+11035T= XP_016866690.1:n.*2+11035T=
NM_005074.5:c.*3-4530T= MANE Select NP_005065.2:n.*3-4530T=