Canonical Allele Identifier: CA363158196

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813193T>A (hg19) ; chr6:g.25812965T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812965T>A , CM000668.2:g.25812965T>A	GRCh38
NC_000006.11:g.25813193T>A , CM000668.1:g.25813193T>A	GRCh37
NC_000006.10:g.25921172T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.763A>T MANE Select	ENSP00000244527.4:p.Ile255Phe
ENST00000244527.8:c.763A>T	ENSP00000244527.4:p.Ile255Phe
ENST00000377886.6:c.*14A>T	ENSP00000367118.2:n.*14A>T
ENST00000468082.1:c.735+130A>T	ENSP00000420546.1:n.735+130A>T
ENST00000476801.5:c.763A>T	ENSP00000420614.1:p.Ile255Phe
NM_005074.3:c.763A>T	NP_005065.2:p.Ile255Phe
XM_011514818.1:c.763A>T	XP_011513120.1:p.Ile255Phe
XM_011514819.1:c.676A>T	XP_011513121.1:p.Ile226Phe
XM_011514820.1:c.735+130A>T	XP_011513122.1:n.735+130A>T
XM_011514821.1:c.550A>T	XP_011513123.1:p.Ile184Phe
XM_011514818.2:c.913A>T	XP_011513120.2:p.Ile305Phe
XM_011514819.2:c.826A>T	XP_011513121.2:p.Ile276Phe
XM_011514820.2:c.885+130A>T	XP_011513122.2:n.885+130A>T
XM_011514821.2:c.550A>T	XP_011513123.1:p.Ile184Phe
XM_017011199.1:c.913A>T	XP_016866688.1:p.Ile305Phe
XM_017011200.1:c.913A>T	XP_016866689.1:p.Ile305Phe
XM_017011201.2:c.913A>T	XP_016866690.1:p.Ile305Phe
XM_017011202.1:c.829A>T	XP_016866691.1:p.Ile277Phe
NM_005074.5:c.763A>T MANE Select	NP_005065.2:p.Ile255Phe