Canonical Allele Identifier: CA363158074

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813153G>C (hg19) ; chr6:g.25812925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812925G>C , CM000668.2:g.25812925G>C	GRCh38
NC_000006.11:g.25813153G>C , CM000668.1:g.25813153G>C	GRCh37
NC_000006.10:g.25921132G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244527.10:c.803C>G MANE Select	ENSP00000244527.4:p.Ser268Cys
ENST00000244527.8:c.803C>G	ENSP00000244527.4:p.Ser268Cys
ENST00000377886.6:c.*54C>G	ENSP00000367118.2:n.*54C>G
ENST00000468082.1:c.735+170C>G	ENSP00000420546.1:n.735+170C>G
ENST00000476801.5:c.803C>G	ENSP00000420614.1:p.Ser268Cys
NM_005074.3:c.803C>G	NP_005065.2:p.Ser268Cys
XM_011514818.1:c.803C>G	XP_011513120.1:p.Ser268Cys
XM_011514819.1:c.716C>G	XP_011513121.1:p.Ser239Cys
XM_011514820.1:c.735+170C>G	XP_011513122.1:n.735+170C>G
XM_011514821.1:c.590C>G	XP_011513123.1:p.Ser197Cys
XM_011514818.2:c.953C>G	XP_011513120.2:p.Ser318Cys
XM_011514819.2:c.866C>G	XP_011513121.2:p.Ser289Cys
XM_011514820.2:c.885+170C>G	XP_011513122.2:n.885+170C>G
XM_011514821.2:c.590C>G	XP_011513123.1:p.Ser197Cys
XM_017011199.1:c.953C>G	XP_016866688.1:p.Ser318Cys
XM_017011200.1:c.953C>G	XP_016866689.1:p.Ser318Cys
XM_017011201.2:c.953C>G	XP_016866690.1:p.Ser318Cys
XM_017011202.1:c.869C>G	XP_016866691.1:p.Ser290Cys
NM_005074.5:c.803C>G MANE Select	NP_005065.2:p.Ser268Cys