Canonical Allele Identifier: CA363158171

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813186G>C (hg19) ; chr6:g.25812958G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812958G>C , CM000668.2:g.25812958G>C	GRCh38
NC_000006.11:g.25813186G>C , CM000668.1:g.25813186G>C	GRCh37
NC_000006.10:g.25921165G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.770C>G MANE Select	ENSP00000244527.4:p.Ala257Gly
ENST00000244527.8:c.770C>G	ENSP00000244527.4:p.Ala257Gly
ENST00000377886.6:c.*21C>G	ENSP00000367118.2:n.*21C>G
ENST00000468082.1:c.735+137C>G	ENSP00000420546.1:n.735+137C>G
ENST00000476801.5:c.770C>G	ENSP00000420614.1:p.Ala257Gly
NM_005074.3:c.770C>G	NP_005065.2:p.Ala257Gly
XM_011514818.1:c.770C>G	XP_011513120.1:p.Ala257Gly
XM_011514819.1:c.683C>G	XP_011513121.1:p.Ala228Gly
XM_011514820.1:c.735+137C>G	XP_011513122.1:n.735+137C>G
XM_011514821.1:c.557C>G	XP_011513123.1:p.Ala186Gly
XM_011514818.2:c.920C>G	XP_011513120.2:p.Ala307Gly
XM_011514819.2:c.833C>G	XP_011513121.2:p.Ala278Gly
XM_011514820.2:c.885+137C>G	XP_011513122.2:n.885+137C>G
XM_011514821.2:c.557C>G	XP_011513123.1:p.Ala186Gly
XM_017011199.1:c.920C>G	XP_016866688.1:p.Ala307Gly
XM_017011200.1:c.920C>G	XP_016866689.1:p.Ala307Gly
XM_017011201.2:c.920C>G	XP_016866690.1:p.Ala307Gly
XM_017011202.1:c.836C>G	XP_016866691.1:p.Ala279Gly
NM_005074.5:c.770C>G MANE Select	NP_005065.2:p.Ala257Gly