Canonical Allele Identifier: CA16041076
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 371032
ClinVar RCV Id: RCV000411919
dbSNP Id: rs1057516951
gnomAD v4: 6-73600350-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600350C>T , CM000668.2:g.73600350C>T GRCh38
NC_000006.11:g.74310073C>T , CM000668.1:g.74310073C>T GRCh37
NC_000006.10:g.74366794C>T NCBI36
NG_008272.1:g.58665G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.1350+1G>A MANE Select ENSP00000348019.5:n.1350+1G>A
ENST00000355773.5:c.1350+1G>A ENSP00000348019.5:n.1350+1G>A
NM_012434.4:c.1350+1G>A NP_036566.1:n.1350+1G>A
XM_005248710.2:c.1299+1G>A XP_005248767.1:n.1299+1G>A
XM_005248711.1:c.1152+1G>A XP_005248768.1:n.1152+1G>A
XM_011535750.1:c.*8+1G>A XP_011534052.1:n.*8+1G>A
NM_012434.5:c.1350+1G>A MANE Select NP_036566.1:n.1350+1G>A
NM_001382629.1:c.1119+1G>A NP_001369558.1:n.1119+1G>A
NM_001382630.1:c.1260-5136G>A NP_001369559.1:n.1260-5136G>A
NM_001382631.1:c.1371+1G>A NP_001369560.1:n.1371+1G>A
NM_001382632.1:c.1263+1G>A NP_001369561.1:n.1263+1G>A
NM_001382633.1:c.1350+1G>A NP_001369562.1:n.1350+1G>A
NM_001382634.1:c.1191+1G>A NP_001369563.1:n.1191+1G>A
NM_001382635.1:c.1347+1G>A NP_001369564.1:n.1347+1G>A
NM_001382636.1:c.1032+1G>A NP_001369565.1:n.1032+1G>A