Canonical Allele Identifier: CA275529
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 203395
ClinVar RCV Id: RCV000185578 RCV000185579
dbSNP Id: rs794729653
gnomAD v4: 6-73641806-AT-A
MyVariant Identifiers: chr6:g.74351530del (hg19) chr6:g.73641807del (hg38)
PubMed: PMID:10581036 PMID:15805149
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641810del , CM000668.2:g.73641810del GRCh38
NC_000006.11:g.74351533del , CM000668.1:g.74351533del GRCh37
NC_000006.10:g.74408254del NCBI36
NG_008272.1:g.17208del

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.409del MANE Select ENSP00000348019.5:p.Met137CysfsTer3
ENST00000355773.5:c.409del ENSP00000348019.5:p.Met137CysfsTer3
ENST00000481996.1:n.175del
NM_012434.4:c.409del NP_036566.1:p.Met137CysfsTer3
XM_005248710.2:c.358del XP_005248767.1:p.Met120CysfsTer3
XM_005248711.1:c.211del XP_005248768.1:p.Met71CysfsTer3
XM_011535750.1:c.409del XP_011534052.1:p.Met137CysfsTer3
XM_011535751.1:c.409del XP_011534053.1:p.Met137CysfsTer3
NM_012434.5:c.409del MANE Select NP_036566.1:p.Met137CysfsTer3
NM_001382629.1:c.178del NP_001369558.1:p.Met60CysfsTer3
NM_001382630.1:c.409del NP_001369559.1:p.Met137CysfsTer3
NM_001382631.1:c.430del NP_001369560.1:p.Met144CysfsTer3
NM_001382632.1:c.409del NP_001369561.1:p.Met137CysfsTer3
NM_001382633.1:c.409del NP_001369562.1:p.Met137CysfsTer3
NM_001382634.1:c.409del NP_001369563.1:p.Met137CysfsTer3
NM_001382635.1:c.409del NP_001369564.1:p.Met137CysfsTer3
NM_001382636.1:c.178del NP_001369565.1:p.Met60CysfsTer3
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