Canonical Allele Identifier: CA1616754882
Gene: SLC17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25786765C>G , CM000668.2:g.25786765C>G GRCh38
NC_000006.11:g.25786993C>G , CM000668.1:g.25786993C>G GRCh37
NC_000006.10:g.25894972C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*3-3547G>C MANE Select ENSP00000244527.4:n.*3-3547G>C
ENST00000244527.8:c.*3-3547G>C ENSP00000244527.4:n.*3-3547G>C
ENST00000377886.6:c.*658-3547G>C ENSP00000367118.2:n.*658-3547G>C
NM_005074.3:c.*3-3547G>C NP_005065.2:n.*3-3547G>C
XM_011514818.1:c.1179-3547G>C XP_011513120.1:n.1179-3547G>C
XM_011514818.2:c.1329-3547G>C XP_011513120.2:n.1329-3547G>C
XM_017011200.1:c.*3-3547G>C XP_016866689.1:n.*3-3547G>C
XM_017011201.2:c.*2+12018G>C XP_016866690.1:n.*2+12018G>C
NM_005074.5:c.*3-3547G>C MANE Select NP_005065.2:n.*3-3547G>C