Canonical Allele Identifier: CA16041084
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 370349
ClinVar RCV Id: RCV000410726
dbSNP Id: rs1057516419
MyVariant Identifiers: chr6:g.74351516del (hg19) chr6:g.73641793del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641795del , CM000668.2:g.73641795del GRCh38
NC_000006.11:g.74351518del , CM000668.1:g.74351518del GRCh37
NC_000006.10:g.74408239del NCBI36
NG_008272.1:g.17222del

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.423del MANE Select ENSP00000348019.5:p.Phe141LeufsTer19
ENST00000355773.5:c.423del ENSP00000348019.5:p.Phe141LeufsTer19
ENST00000481996.1:n.189del
NM_012434.4:c.423del NP_036566.1:p.Phe141LeufsTer19
XM_005248710.2:c.372del XP_005248767.1:p.Phe124LeufsTer19
XM_005248711.1:c.225del XP_005248768.1:p.Phe75LeufsTer19
XM_011535750.1:c.423del XP_011534052.1:p.Phe141LeufsTer19
XM_011535751.1:c.423del XP_011534053.1:p.Phe141LeufsTer19
NM_012434.5:c.423del MANE Select NP_036566.1:p.Phe141LeufsTer19
NM_001382629.1:c.192del NP_001369558.1:p.Phe64LeufsTer19
NM_001382630.1:c.423del NP_001369559.1:p.Phe141LeufsTer19
NM_001382631.1:c.444del NP_001369560.1:p.Phe148LeufsTer19
NM_001382632.1:c.423del NP_001369561.1:p.Phe141LeufsTer19
NM_001382633.1:c.423del NP_001369562.1:p.Phe141LeufsTer19
NM_001382634.1:c.423del NP_001369563.1:p.Phe141LeufsTer19
NM_001382635.1:c.423del NP_001369564.1:p.Phe141LeufsTer19
NM_001382636.1:c.192del NP_001369565.1:p.Phe64LeufsTer19
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