Canonical Allele Identifier: CA12291423

Gene: SLC17A1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25786765C>T , CM000668.2:g.25786765C>T	GRCh38
NC_000006.11:g.25786993C>T , CM000668.1:g.25786993C>T	GRCh37
NC_000006.10:g.25894972C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-3547G>A MANE Select	ENSP00000244527.4:n.*3-3547G>A
ENST00000244527.8:c.*3-3547G>A	ENSP00000244527.4:n.*3-3547G>A
ENST00000377886.6:c.*658-3547G>A	ENSP00000367118.2:n.*658-3547G>A
NM_005074.3:c.*3-3547G>A	NP_005065.2:n.*3-3547G>A
XM_011514818.1:c.1179-3547G>A	XP_011513120.1:n.1179-3547G>A
XM_011514818.2:c.1329-3547G>A	XP_011513120.2:n.1329-3547G>A
XM_017011200.1:c.*3-3547G>A	XP_016866689.1:n.*3-3547G>A
XM_017011201.2:c.*2+12018G>A	XP_016866690.1:n.*2+12018G>A
NM_005074.5:c.*3-3547G>A MANE Select	NP_005065.2:n.*3-3547G>A