Canonical Allele Identifier: CA2677592057

Gene: SLC17A1

Linked Data

• gnomAD v4: 6-25813047-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25813047G>A , CM000668.2:g.25813047G>A	GRCh38
NC_000006.11:g.25813275G>A , CM000668.1:g.25813275G>A	GRCh37
NC_000006.10:g.25921254G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.735+48C>T MANE Select	ENSP00000244527.4:n.735+48C>T
ENST00000244527.8:c.735+48C>T	ENSP00000244527.4:n.735+48C>T
ENST00000377886.6:c.617-55C>T	ENSP00000367118.2:n.617-55C>T
ENST00000468082.1:c.735+48C>T	ENSP00000420546.1:n.735+48C>T
ENST00000476801.5:c.735+48C>T	ENSP00000420614.1:n.735+48C>T
NM_005074.3:c.735+48C>T	NP_005065.2:n.735+48C>T
XM_011514818.1:c.735+48C>T	XP_011513120.1:n.735+48C>T
XM_011514819.1:c.648+48C>T	XP_011513121.1:n.648+48C>T
XM_011514820.1:c.735+48C>T	XP_011513122.1:n.735+48C>T
XM_011514821.1:c.522+48C>T	XP_011513123.1:n.522+48C>T
XM_011514818.2:c.885+48C>T	XP_011513120.2:n.885+48C>T
XM_011514819.2:c.798+48C>T	XP_011513121.2:n.798+48C>T
XM_011514820.2:c.885+48C>T	XP_011513122.2:n.885+48C>T
XM_011514821.2:c.522+48C>T	XP_011513123.1:n.522+48C>T
XM_017011199.1:c.885+48C>T	XP_016866688.1:n.885+48C>T
XM_017011200.1:c.885+48C>T	XP_016866689.1:n.885+48C>T
XM_017011201.2:c.885+48C>T	XP_016866690.1:n.885+48C>T
XM_017011202.1:c.801+48C>T	XP_016866691.1:n.801+48C>T
NM_005074.5:c.735+48C>T MANE Select	NP_005065.2:n.735+48C>T