Canonical Allele Identifier: CA363158065

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813148C>G (hg19) ; chr6:g.25812920C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812920C>G , CM000668.2:g.25812920C>G	GRCh38
NC_000006.11:g.25813148C>G , CM000668.1:g.25813148C>G	GRCh37
NC_000006.10:g.25921127C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.808G>C MANE Select	ENSP00000244527.4:p.Gly270Arg
ENST00000244527.8:c.808G>C	ENSP00000244527.4:p.Gly270Arg
ENST00000377886.6:c.*59G>C	ENSP00000367118.2:n.*59G>C
ENST00000468082.1:c.735+175G>C	ENSP00000420546.1:n.735+175G>C
ENST00000476801.5:c.808G>C	ENSP00000420614.1:p.Gly270Arg
NM_005074.3:c.808G>C	NP_005065.2:p.Gly270Arg
XM_011514818.1:c.808G>C	XP_011513120.1:p.Gly270Arg
XM_011514819.1:c.721G>C	XP_011513121.1:p.Gly241Arg
XM_011514820.1:c.735+175G>C	XP_011513122.1:n.735+175G>C
XM_011514821.1:c.595G>C	XP_011513123.1:p.Gly199Arg
XM_011514818.2:c.958G>C	XP_011513120.2:p.Gly320Arg
XM_011514819.2:c.871G>C	XP_011513121.2:p.Gly291Arg
XM_011514820.2:c.885+175G>C	XP_011513122.2:n.885+175G>C
XM_011514821.2:c.595G>C	XP_011513123.1:p.Gly199Arg
XM_017011199.1:c.958G>C	XP_016866688.1:p.Gly320Arg
XM_017011200.1:c.958G>C	XP_016866689.1:p.Gly320Arg
XM_017011201.2:c.958G>C	XP_016866690.1:p.Gly320Arg
XM_017011202.1:c.874G>C	XP_016866691.1:p.Gly292Arg
NM_005074.5:c.808G>C MANE Select	NP_005065.2:p.Gly270Arg