Canonical Allele Identifier: CA12425751

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1165176
• gnomAD v2: 6-25830298-A-G
• gnomAD v3: 6-25830070-A-G
• gnomAD v4: 6-25830070-A-G
• MyVariant Identifiers: chr6:g.25830298A>G (hg19) ; chr6:g.25830070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25830070A>G , CM000668.2:g.25830070A>G	GRCh38
NC_000006.11:g.25830298A>G , CM000668.1:g.25830298A>G	GRCh37
NC_000006.10:g.25938277A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244527.10:c.34+454T>C MANE Select	ENSP00000244527.4:n.34+454T>C
ENST00000244527.8:c.34+454T>C	ENSP00000244527.4:n.34+454T>C
ENST00000377886.6:c.34+454T>C	ENSP00000367118.2:n.34+454T>C
ENST00000468082.1:c.34+454T>C	ENSP00000420546.1:n.34+454T>C
ENST00000476801.5:c.34+454T>C	ENSP00000420614.1:n.34+454T>C
NM_005074.3:c.34+454T>C	NP_005065.2:n.34+454T>C
XM_011514818.1:c.34+454T>C	XP_011513120.1:n.34+454T>C
XM_011514819.1:c.34+454T>C	XP_011513121.1:n.34+454T>C
XM_011514820.1:c.34+454T>C	XP_011513122.1:n.34+454T>C
XM_011514821.1:c.-7+1924T>C	XP_011513123.1:n.-7+1924T>C
XM_011514818.2:c.184+454T>C	XP_011513120.2:n.184+454T>C
XM_011514819.2:c.184+454T>C	XP_011513121.2:n.184+454T>C
XM_011514820.2:c.184+454T>C	XP_011513122.2:n.184+454T>C
XM_011514821.2:c.-7+1924T>C	XP_011513123.1:n.-7+1924T>C
XM_017011199.1:c.184+454T>C	XP_016866688.1:n.184+454T>C
XM_017011200.1:c.184+454T>C	XP_016866689.1:n.184+454T>C
XM_017011201.2:c.184+454T>C	XP_016866690.1:n.184+454T>C
XM_017011202.1:c.100+1924T>C	XP_016866691.1:n.100+1924T>C
NM_005074.5:c.34+454T>C MANE Select	NP_005065.2:n.34+454T>C