Canonical Allele Identifier: CA2677592061

Gene: SLC17A1

Linked Data

• gnomAD v4: 6-25813071-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25813071C>G , CM000668.2:g.25813071C>G	GRCh38
NC_000006.11:g.25813299C>G , CM000668.1:g.25813299C>G	GRCh37
NC_000006.10:g.25921278C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.735+24G>C MANE Select	ENSP00000244527.4:n.735+24G>C
ENST00000244527.8:c.735+24G>C	ENSP00000244527.4:n.735+24G>C
ENST00000377886.6:c.617-79G>C	ENSP00000367118.2:n.617-79G>C
ENST00000468082.1:c.735+24G>C	ENSP00000420546.1:n.735+24G>C
ENST00000476801.5:c.735+24G>C	ENSP00000420614.1:n.735+24G>C
NM_005074.3:c.735+24G>C	NP_005065.2:n.735+24G>C
XM_011514818.1:c.735+24G>C	XP_011513120.1:n.735+24G>C
XM_011514819.1:c.648+24G>C	XP_011513121.1:n.648+24G>C
XM_011514820.1:c.735+24G>C	XP_011513122.1:n.735+24G>C
XM_011514821.1:c.522+24G>C	XP_011513123.1:n.522+24G>C
XM_011514818.2:c.885+24G>C	XP_011513120.2:n.885+24G>C
XM_011514819.2:c.798+24G>C	XP_011513121.2:n.798+24G>C
XM_011514820.2:c.885+24G>C	XP_011513122.2:n.885+24G>C
XM_011514821.2:c.522+24G>C	XP_011513123.1:n.522+24G>C
XM_017011199.1:c.885+24G>C	XP_016866688.1:n.885+24G>C
XM_017011200.1:c.885+24G>C	XP_016866689.1:n.885+24G>C
XM_017011201.2:c.885+24G>C	XP_016866690.1:n.885+24G>C
XM_017011202.1:c.801+24G>C	XP_016866691.1:n.801+24G>C
NM_005074.5:c.735+24G>C MANE Select	NP_005065.2:n.735+24G>C