Canonical Allele Identifier: CA16041083
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 370912
ClinVar RCV Id: RCV000410694
dbSNP Id: rs1057516862
MyVariant Identifiers: chr6:g.74346351del (hg19) chr6:g.73636628del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73636628del , CM000668.2:g.73636628del GRCh38
NC_000006.11:g.74346351del , CM000668.1:g.74346351del GRCh37
NC_000006.10:g.74403072del NCBI36
NG_008272.1:g.22387del

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.693del MANE Select ENSP00000348019.5:p.Phe233LeufsTer15
ENST00000355773.5:c.693del ENSP00000348019.5:p.Phe233LeufsTer15
ENST00000481996.1:n.459del
NM_012434.4:c.693del NP_036566.1:p.Phe233LeufsTer15
XM_005248710.2:c.642del XP_005248767.1:p.Phe216LeufsTer15
XM_005248711.1:c.495del XP_005248768.1:p.Phe167LeufsTer15
XM_011535750.1:c.693del XP_011534052.1:p.Phe233LeufsTer15
XM_011535751.1:c.693del XP_011534053.1:p.Phe233LeufsTer15
NM_012434.5:c.693del MANE Select NP_036566.1:p.Phe233LeufsTer15
NM_001382629.1:c.462del NP_001369558.1:p.Phe156LeufsTer15
NM_001382630.1:c.693del NP_001369559.1:p.Phe233LeufsTer15
NM_001382631.1:c.714del NP_001369560.1:p.Phe240LeufsTer15
NM_001382632.1:c.614-1128del NP_001369561.1:n.614-1128del
NM_001382633.1:c.693del NP_001369562.1:p.Phe233LeufsTer15
NM_001382634.1:c.693del NP_001369563.1:p.Phe233LeufsTer15
NM_001382635.1:c.690del NP_001369564.1:p.Phe232LeufsTer15
NM_001382636.1:c.383-1128del NP_001369565.1:n.383-1128del
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