Canonical Allele Identifier: CA136229807

Gene: SLC17A1

Linked Data

• dbSNP Id: rs143917243
• gnomAD v2: 6-25812980-C-T
• gnomAD v3: 6-25812752-C-T
• gnomAD v4: 6-25812752-C-T
• MyVariant Identifiers: chr6:g.25812980C>T (hg19) ; chr6:g.25812752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812752C>T , CM000668.2:g.25812752C>T	GRCh38
NC_000006.11:g.25812980C>T , CM000668.1:g.25812980C>T	GRCh37
NC_000006.10:g.25920959C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.897+79G>A MANE Select	ENSP00000244527.4:n.897+79G>A
ENST00000244527.8:c.897+79G>A	ENSP00000244527.4:n.897+79G>A
ENST00000377886.6:c.*148+79G>A	ENSP00000367118.2:n.*148+79G>A
ENST00000468082.1:c.735+343G>A	ENSP00000420546.1:n.735+343G>A
ENST00000476801.5:c.897+79G>A	ENSP00000420614.1:n.897+79G>A
NM_005074.3:c.897+79G>A	NP_005065.2:n.897+79G>A
XM_011514818.1:c.897+79G>A	XP_011513120.1:n.897+79G>A
XM_011514819.1:c.810+79G>A	XP_011513121.1:n.810+79G>A
XM_011514820.1:c.735+343G>A	XP_011513122.1:n.735+343G>A
XM_011514821.1:c.684+79G>A	XP_011513123.1:n.684+79G>A
XM_011514818.2:c.1047+79G>A	XP_011513120.2:n.1047+79G>A
XM_011514819.2:c.960+79G>A	XP_011513121.2:n.960+79G>A
XM_011514820.2:c.885+343G>A	XP_011513122.2:n.885+343G>A
XM_011514821.2:c.684+79G>A	XP_011513123.1:n.684+79G>A
XM_017011199.1:c.1047+79G>A	XP_016866688.1:n.1047+79G>A
XM_017011200.1:c.1047+79G>A	XP_016866689.1:n.1047+79G>A
XM_017011201.2:c.1047+79G>A	XP_016866690.1:n.1047+79G>A
XM_017011202.1:c.963+79G>A	XP_016866691.1:n.963+79G>A
NM_005074.5:c.897+79G>A MANE Select	NP_005065.2:n.897+79G>A