Canonical Allele Identifier: CA16041078
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 371232
ClinVar RCV Id: RCV000410715
dbSNP Id: rs1057517111
MyVariant Identifiers: chr6:g.74320255del (hg19) chr6:g.73610532del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73610532del , CM000668.2:g.73610532del GRCh38
NC_000006.11:g.74320255del , CM000668.1:g.74320255del GRCh37
NC_000006.10:g.74376976del NCBI36
NG_008272.1:g.48483del

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.1127del MANE Select ENSP00000348019.5:p.Ala376GlufsTer5
ENST00000355773.5:c.1127del ENSP00000348019.5:p.Ala376GlufsTer5
NM_012434.4:c.1127del NP_036566.1:p.Ala376GlufsTer5
XM_005248710.2:c.1076del XP_005248767.1:p.Ala359GlufsTer5
XM_005248711.1:c.929del XP_005248768.1:p.Ala310GlufsTer5
XM_011535750.1:c.1111+4783del XP_011534052.1:n.1111+4783del
NM_012434.5:c.1127del MANE Select NP_036566.1:p.Ala376GlufsTer5
NM_001382629.1:c.896del NP_001369558.1:p.Ala299GlufsTer5
NM_001382630.1:c.1127del NP_001369559.1:p.Ala376GlufsTer5
NM_001382631.1:c.1148del NP_001369560.1:p.Ala383GlufsTer5
NM_001382632.1:c.1040del NP_001369561.1:p.Ala347GlufsTer5
NM_001382633.1:c.1127del NP_001369562.1:p.Ala376GlufsTer5
NM_001382634.1:c.968del NP_001369563.1:p.Ala323GlufsTer5
NM_001382635.1:c.1124del NP_001369564.1:p.Ala375GlufsTer5
NM_001382636.1:c.809del NP_001369565.1:p.Ala270GlufsTer5
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