Canonical Allele Identifier: CA1616765683

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1764214115
• gnomAD v4: 6-25813036-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25813036G>C , CM000668.2:g.25813036G>C	GRCh38
NC_000006.11:g.25813264G>C , CM000668.1:g.25813264G>C	GRCh37
NC_000006.10:g.25921243G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.736-44C>G MANE Select	ENSP00000244527.4:n.736-44C>G
ENST00000244527.8:c.736-44C>G	ENSP00000244527.4:n.736-44C>G
ENST00000377886.6:c.617-44C>G	ENSP00000367118.2:n.617-44C>G
ENST00000468082.1:c.735+59C>G	ENSP00000420546.1:n.735+59C>G
ENST00000476801.5:c.736-44C>G	ENSP00000420614.1:n.736-44C>G
NM_005074.3:c.736-44C>G	NP_005065.2:n.736-44C>G
XM_011514818.1:c.736-44C>G	XP_011513120.1:n.736-44C>G
XM_011514819.1:c.649-44C>G	XP_011513121.1:n.649-44C>G
XM_011514820.1:c.735+59C>G	XP_011513122.1:n.735+59C>G
XM_011514821.1:c.523-44C>G	XP_011513123.1:n.523-44C>G
XM_011514818.2:c.886-44C>G	XP_011513120.2:n.886-44C>G
XM_011514819.2:c.799-44C>G	XP_011513121.2:n.799-44C>G
XM_011514820.2:c.885+59C>G	XP_011513122.2:n.885+59C>G
XM_011514821.2:c.523-44C>G	XP_011513123.1:n.523-44C>G
XM_017011199.1:c.886-44C>G	XP_016866688.1:n.886-44C>G
XM_017011200.1:c.886-44C>G	XP_016866689.1:n.886-44C>G
XM_017011201.2:c.886-44C>G	XP_016866690.1:n.886-44C>G
XM_017011202.1:c.802-44C>G	XP_016866691.1:n.802-44C>G
NM_005074.5:c.736-44C>G MANE Select	NP_005065.2:n.736-44C>G