Canonical Allele Identifier: CA1616765597

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812834T= , CM000668.2:g.25812834T=	GRCh38
NC_000006.11:g.25813062T= , CM000668.1:g.25813062T=	GRCh37
NC_000006.10:g.25921041T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.894A= MANE Select	ENSP00000244527.4:p.Lys298=
ENST00000244527.8:c.894A=	ENSP00000244527.4:p.Lys298=
ENST00000377886.6:c.*145A=	ENSP00000367118.2:n.*145A=
ENST00000468082.1:c.735+261A=	ENSP00000420546.1:n.735+261A=
ENST00000476801.5:c.894A=	ENSP00000420614.1:p.Lys298=
NM_005074.3:c.894A=	NP_005065.2:p.Lys298=
XM_011514818.1:c.894A=	XP_011513120.1:p.Lys298=
XM_011514819.1:c.807A=	XP_011513121.1:p.Lys269=
XM_011514820.1:c.735+261A=	XP_011513122.1:n.735+261A=
XM_011514821.1:c.681A=	XP_011513123.1:p.Lys227=
XM_011514818.2:c.1044A=	XP_011513120.2:p.Lys348=
XM_011514819.2:c.957A=	XP_011513121.2:p.Lys319=
XM_011514820.2:c.885+261A=	XP_011513122.2:n.885+261A=
XM_011514821.2:c.681A=	XP_011513123.1:p.Lys227=
XM_017011199.1:c.1044A=	XP_016866688.1:p.Lys348=
XM_017011200.1:c.1044A=	XP_016866689.1:p.Lys348=
XM_017011201.2:c.1044A=	XP_016866690.1:p.Lys348=
XM_017011202.1:c.960A=	XP_016866691.1:p.Lys320=
NM_005074.5:c.894A= MANE Select	NP_005065.2:p.Lys298=