Canonical Allele Identifier: CA823417133

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1405278018
• gnomAD v3: 6-25787733-C-T
• gnomAD v4: 6-25787733-C-T
• MyVariant Identifiers: chr6:g.25787961C>T (hg19) ; chr6:g.25787733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787733C>T , CM000668.2:g.25787733C>T	GRCh38
NC_000006.11:g.25787961C>T , CM000668.1:g.25787961C>T	GRCh37
NC_000006.10:g.25895940C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4515G>A MANE Select	ENSP00000244527.4:n.*3-4515G>A
ENST00000244527.8:c.*3-4515G>A	ENSP00000244527.4:n.*3-4515G>A
ENST00000377886.6:c.*658-4515G>A	ENSP00000367118.2:n.*658-4515G>A
NM_005074.3:c.*3-4515G>A	NP_005065.2:n.*3-4515G>A
XM_011514818.1:c.1179-4515G>A	XP_011513120.1:n.1179-4515G>A
XM_011514818.2:c.1329-4515G>A	XP_011513120.2:n.1329-4515G>A
XM_017011200.1:c.*3-4515G>A	XP_016866689.1:n.*3-4515G>A
XM_017011201.2:c.*2+11050G>A	XP_016866690.1:n.*2+11050G>A
NM_005074.5:c.*3-4515G>A MANE Select	NP_005065.2:n.*3-4515G>A