Canonical Allele Identifier: CA363157933

Gene: SLC17A1

Linked Data

• gnomAD v4: 6-25812887-T-A
• MyVariant Identifiers: chr6:g.25813115T>A (hg19) ; chr6:g.25812887T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812887T>A , CM000668.2:g.25812887T>A	GRCh38
NC_000006.11:g.25813115T>A , CM000668.1:g.25813115T>A	GRCh37
NC_000006.10:g.25921094T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.841A>T MANE Select	ENSP00000244527.4:p.Met281Leu
ENST00000244527.8:c.841A>T	ENSP00000244527.4:p.Met281Leu
ENST00000377886.6:c.*92A>T	ENSP00000367118.2:n.*92A>T
ENST00000468082.1:c.735+208A>T	ENSP00000420546.1:n.735+208A>T
ENST00000476801.5:c.841A>T	ENSP00000420614.1:p.Met281Leu
NM_005074.3:c.841A>T	NP_005065.2:p.Met281Leu
XM_011514818.1:c.841A>T	XP_011513120.1:p.Met281Leu
XM_011514819.1:c.754A>T	XP_011513121.1:p.Met252Leu
XM_011514820.1:c.735+208A>T	XP_011513122.1:n.735+208A>T
XM_011514821.1:c.628A>T	XP_011513123.1:p.Met210Leu
XM_011514818.2:c.991A>T	XP_011513120.2:p.Met331Leu
XM_011514819.2:c.904A>T	XP_011513121.2:p.Met302Leu
XM_011514820.2:c.885+208A>T	XP_011513122.2:n.885+208A>T
XM_011514821.2:c.628A>T	XP_011513123.1:p.Met210Leu
XM_017011199.1:c.991A>T	XP_016866688.1:p.Met331Leu
XM_017011200.1:c.991A>T	XP_016866689.1:p.Met331Leu
XM_017011201.2:c.991A>T	XP_016866690.1:p.Met331Leu
XM_017011202.1:c.907A>T	XP_016866691.1:p.Met303Leu
NM_005074.5:c.841A>T MANE Select	NP_005065.2:p.Met281Leu