Canonical Allele Identifier: CA1638223663
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs1766992690
gnomAD v4: 6-73600227-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600227T>C , CM000668.2:g.73600227T>C GRCh38
NC_000006.11:g.74309950T>C , CM000668.1:g.74309950T>C GRCh37
NC_000006.10:g.74366671T>C NCBI36
NG_008272.1:g.58788A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1350+124A>G MANE Select ENSP00000348019.5:n.1350+124A>G
ENST00000355773.5:c.1350+124A>G ENSP00000348019.5:n.1350+124A>G
NM_012434.4:c.1350+124A>G NP_036566.1:n.1350+124A>G
XM_005248710.2:c.1299+124A>G XP_005248767.1:n.1299+124A>G
XM_005248711.1:c.1152+124A>G XP_005248768.1:n.1152+124A>G
XM_011535750.1:c.*8+124A>G XP_011534052.1:n.*8+124A>G
NM_012434.5:c.1350+124A>G MANE Select NP_036566.1:n.1350+124A>G
NM_001382629.1:c.1119+124A>G NP_001369558.1:n.1119+124A>G
NM_001382630.1:c.1260-5013A>G NP_001369559.1:n.1260-5013A>G
NM_001382631.1:c.1371+124A>G NP_001369560.1:n.1371+124A>G
NM_001382632.1:c.1263+124A>G NP_001369561.1:n.1263+124A>G
NM_001382633.1:c.1350+124A>G NP_001369562.1:n.1350+124A>G
NM_001382634.1:c.1191+124A>G NP_001369563.1:n.1191+124A>G
NM_001382635.1:c.1347+124A>G NP_001369564.1:n.1347+124A>G
NM_001382636.1:c.1032+124A>G NP_001369565.1:n.1032+124A>G