Canonical Allele Identifier: CA448980367

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813152G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812924G>T , CM000668.2:g.25812924G>T	GRCh38
NC_000006.11:g.25813152G>T , CM000668.1:g.25813152G>T	GRCh37
NC_000006.10:g.25921131G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.804C>A MANE Select	ENSP00000244527.4:p.Ser268=
ENST00000244527.8:c.804C>A	ENSP00000244527.4:p.Ser268=
ENST00000377886.6:c.*55C>A	ENSP00000367118.2:n.*55C>A
ENST00000468082.1:c.735+171C>A	ENSP00000420546.1:n.735+171C>A
ENST00000476801.5:c.804C>A	ENSP00000420614.1:p.Ser268=
NM_005074.3:c.804C>A	NP_005065.2:p.Ser268=
XM_011514818.1:c.804C>A	XP_011513120.1:p.Ser268=
XM_011514819.1:c.717C>A	XP_011513121.1:p.Ser239=
XM_011514820.1:c.735+171C>A	XP_011513122.1:n.735+171C>A
XM_011514821.1:c.591C>A	XP_011513123.1:p.Ser197=
XM_011514818.2:c.954C>A	XP_011513120.2:p.Ser318=
XM_011514819.2:c.867C>A	XP_011513121.2:p.Ser289=
XM_011514820.2:c.885+171C>A	XP_011513122.2:n.885+171C>A
XM_011514821.2:c.591C>A	XP_011513123.1:p.Ser197=
XM_017011199.1:c.954C>A	XP_016866688.1:p.Ser318=
XM_017011200.1:c.954C>A	XP_016866689.1:p.Ser318=
XM_017011201.2:c.954C>A	XP_016866690.1:p.Ser318=
XM_017011202.1:c.870C>A	XP_016866691.1:p.Ser290=
NM_005074.5:c.804C>A MANE Select	NP_005065.2:p.Ser268=