Canonical Allele Identifier: CA3662623

Gene: SLC17A1

Linked Data

• dbSNP Id: rs754501604
• ExAC: 6:25813290 T / C
• gnomAD v2: 6-25813290-T-C
• MyVariant Identifiers: chr6:g.25813290T>C (hg19) ; chr6:g.25813062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25813062T>C , CM000668.2:g.25813062T>C	GRCh38
NC_000006.11:g.25813290T>C , CM000668.1:g.25813290T>C	GRCh37
NC_000006.10:g.25921269T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.735+33A>G MANE Select	ENSP00000244527.4:n.735+33A>G
ENST00000244527.8:c.735+33A>G	ENSP00000244527.4:n.735+33A>G
ENST00000377886.6:c.617-70A>G	ENSP00000367118.2:n.617-70A>G
ENST00000468082.1:c.735+33A>G	ENSP00000420546.1:n.735+33A>G
ENST00000476801.5:c.735+33A>G	ENSP00000420614.1:n.735+33A>G
NM_005074.3:c.735+33A>G	NP_005065.2:n.735+33A>G
XM_011514818.1:c.735+33A>G	XP_011513120.1:n.735+33A>G
XM_011514819.1:c.648+33A>G	XP_011513121.1:n.648+33A>G
XM_011514820.1:c.735+33A>G	XP_011513122.1:n.735+33A>G
XM_011514821.1:c.522+33A>G	XP_011513123.1:n.522+33A>G
XM_011514818.2:c.885+33A>G	XP_011513120.2:n.885+33A>G
XM_011514819.2:c.798+33A>G	XP_011513121.2:n.798+33A>G
XM_011514820.2:c.885+33A>G	XP_011513122.2:n.885+33A>G
XM_011514821.2:c.522+33A>G	XP_011513123.1:n.522+33A>G
XM_017011199.1:c.885+33A>G	XP_016866688.1:n.885+33A>G
XM_017011200.1:c.885+33A>G	XP_016866689.1:n.885+33A>G
XM_017011201.2:c.885+33A>G	XP_016866690.1:n.885+33A>G
XM_017011202.1:c.801+33A>G	XP_016866691.1:n.801+33A>G
NM_005074.5:c.735+33A>G MANE Select	NP_005065.2:n.735+33A>G