Canonical Allele Identifier: CA565954603

Gene: SLC17A1

Linked Data

• dbSNP Id: rs756231477
• gnomAD v2: 6-25813024-G-C
• MyVariant Identifiers: chr6:g.25813024G>C (hg19) ; chr6:g.25812796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812796G>C , CM000668.2:g.25812796G>C	GRCh38
NC_000006.11:g.25813024G>C , CM000668.1:g.25813024G>C	GRCh37
NC_000006.10:g.25921003G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.897+35C>G MANE Select	ENSP00000244527.4:n.897+35C>G
ENST00000244527.8:c.897+35C>G	ENSP00000244527.4:n.897+35C>G
ENST00000377886.6:c.*148+35C>G	ENSP00000367118.2:n.*148+35C>G
ENST00000468082.1:c.735+299C>G	ENSP00000420546.1:n.735+299C>G
ENST00000476801.5:c.897+35C>G	ENSP00000420614.1:n.897+35C>G
NM_005074.3:c.897+35C>G	NP_005065.2:n.897+35C>G
XM_011514818.1:c.897+35C>G	XP_011513120.1:n.897+35C>G
XM_011514819.1:c.810+35C>G	XP_011513121.1:n.810+35C>G
XM_011514820.1:c.735+299C>G	XP_011513122.1:n.735+299C>G
XM_011514821.1:c.684+35C>G	XP_011513123.1:n.684+35C>G
XM_011514818.2:c.1047+35C>G	XP_011513120.2:n.1047+35C>G
XM_011514819.2:c.960+35C>G	XP_011513121.2:n.960+35C>G
XM_011514820.2:c.885+299C>G	XP_011513122.2:n.885+299C>G
XM_011514821.2:c.684+35C>G	XP_011513123.1:n.684+35C>G
XM_017011199.1:c.1047+35C>G	XP_016866688.1:n.1047+35C>G
XM_017011200.1:c.1047+35C>G	XP_016866689.1:n.1047+35C>G
XM_017011201.2:c.1047+35C>G	XP_016866690.1:n.1047+35C>G
XM_017011202.1:c.963+35C>G	XP_016866691.1:n.963+35C>G
NM_005074.5:c.897+35C>G MANE Select	NP_005065.2:n.897+35C>G