Canonical Allele Identifier: CA363158101

Gene: SLC17A1

Linked Data

• MyVariant Identifiers: chr6:g.25813165A>G (hg19) ; chr6:g.25812937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812937A>G , CM000668.2:g.25812937A>G	GRCh38
NC_000006.11:g.25813165A>G , CM000668.1:g.25813165A>G	GRCh37
NC_000006.10:g.25921144A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.791T>C MANE Select	ENSP00000244527.4:p.Val264Ala
ENST00000244527.8:c.791T>C	ENSP00000244527.4:p.Val264Ala
ENST00000377886.6:c.*42T>C	ENSP00000367118.2:n.*42T>C
ENST00000468082.1:c.735+158T>C	ENSP00000420546.1:n.735+158T>C
ENST00000476801.5:c.791T>C	ENSP00000420614.1:p.Val264Ala
NM_005074.3:c.791T>C	NP_005065.2:p.Val264Ala
XM_011514818.1:c.791T>C	XP_011513120.1:p.Val264Ala
XM_011514819.1:c.704T>C	XP_011513121.1:p.Val235Ala
XM_011514820.1:c.735+158T>C	XP_011513122.1:n.735+158T>C
XM_011514821.1:c.578T>C	XP_011513123.1:p.Val193Ala
XM_011514818.2:c.941T>C	XP_011513120.2:p.Val314Ala
XM_011514819.2:c.854T>C	XP_011513121.2:p.Val285Ala
XM_011514820.2:c.885+158T>C	XP_011513122.2:n.885+158T>C
XM_011514821.2:c.578T>C	XP_011513123.1:p.Val193Ala
XM_017011199.1:c.941T>C	XP_016866688.1:p.Val314Ala
XM_017011200.1:c.941T>C	XP_016866689.1:p.Val314Ala
XM_017011201.2:c.941T>C	XP_016866690.1:p.Val314Ala
XM_017011202.1:c.857T>C	XP_016866691.1:p.Val286Ala
NM_005074.5:c.791T>C MANE Select	NP_005065.2:p.Val264Ala