Canonical Allele Identifier: CA1616755250
Gene: SLC17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1247902433
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787659T>G , CM000668.2:g.25787659T>G GRCh38
NC_000006.11:g.25787887T>G , CM000668.1:g.25787887T>G GRCh37
NC_000006.10:g.25895866T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*3-4441A>C MANE Select ENSP00000244527.4:n.*3-4441A>C
ENST00000244527.8:c.*3-4441A>C ENSP00000244527.4:n.*3-4441A>C
ENST00000377886.6:c.*658-4441A>C ENSP00000367118.2:n.*658-4441A>C
NM_005074.3:c.*3-4441A>C NP_005065.2:n.*3-4441A>C
XM_011514818.1:c.1179-4441A>C XP_011513120.1:n.1179-4441A>C
XM_011514818.2:c.1329-4441A>C XP_011513120.2:n.1329-4441A>C
XM_017011200.1:c.*3-4441A>C XP_016866689.1:n.*3-4441A>C
XM_017011201.2:c.*2+11124A>C XP_016866690.1:n.*2+11124A>C
NM_005074.5:c.*3-4441A>C MANE Select NP_005065.2:n.*3-4441A>C
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