Canonical Allele Identifier: CA12184808

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1185567
• gnomAD v2: 6-25818588-A-G
• gnomAD v3: 6-25818360-A-G
• gnomAD v4: 6-25818360-A-G
• MyVariant Identifiers: chr6:g.25818588A>G (hg19) ; chr6:g.25818360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25818360A>G , CM000668.2:g.25818360A>G	GRCh38
NC_000006.11:g.25818588A>G , CM000668.1:g.25818588A>G	GRCh37
NC_000006.10:g.25926567A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244527.10:c.616+708T>C MANE Select	ENSP00000244527.4:n.616+708T>C
ENST00000244527.8:c.616+708T>C	ENSP00000244527.4:n.616+708T>C
ENST00000377886.6:c.616+708T>C	ENSP00000367118.2:n.616+708T>C
ENST00000468082.1:c.616+708T>C	ENSP00000420546.1:n.616+708T>C
ENST00000476801.5:c.616+708T>C	ENSP00000420614.1:n.616+708T>C
NM_005074.3:c.616+708T>C	NP_005065.2:n.616+708T>C
XM_011514818.1:c.616+708T>C	XP_011513120.1:n.616+708T>C
XM_011514819.1:c.529+1151T>C	XP_011513121.1:n.529+1151T>C
XM_011514820.1:c.616+708T>C	XP_011513122.1:n.616+708T>C
XM_011514821.1:c.403+708T>C	XP_011513123.1:n.403+708T>C
XM_011514818.2:c.766+708T>C	XP_011513120.2:n.766+708T>C
XM_011514819.2:c.679+1151T>C	XP_011513121.2:n.679+1151T>C
XM_011514820.2:c.766+708T>C	XP_011513122.2:n.766+708T>C
XM_011514821.2:c.403+708T>C	XP_011513123.1:n.403+708T>C
XM_017011199.1:c.766+708T>C	XP_016866688.1:n.766+708T>C
XM_017011200.1:c.766+708T>C	XP_016866689.1:n.766+708T>C
XM_017011201.2:c.766+708T>C	XP_016866690.1:n.766+708T>C
XM_017011202.1:c.682+708T>C	XP_016866691.1:n.682+708T>C
NM_005074.5:c.616+708T>C MANE Select	NP_005065.2:n.616+708T>C