Canonical Allele Identifier: CA1638223908
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600413T= , CM000668.2:g.73600413T= GRCh38
NC_000006.11:g.74310136T= , CM000668.1:g.74310136T= GRCh37
NC_000006.10:g.74366857T= NCBI36
NG_008272.1:g.58602A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1288A= MANE Select ENSP00000348019.5:p.Asn430=
ENST00000355773.5:c.1288A= ENSP00000348019.5:p.Asn430=
NM_012434.4:c.1288A= NP_036566.1:p.Asn430=
XM_005248710.2:c.1237A= XP_005248767.1:p.Asn413=
XM_005248711.1:c.1090A= XP_005248768.1:p.Asn364=
XM_011535750.1:c.1140A= XP_011534052.1:p.Gln380=
NM_012434.5:c.1288A= MANE Select NP_036566.1:p.Asn430=
NM_001382629.1:c.1057A= NP_001369558.1:p.Asn353=
NM_001382630.1:c.1260-5199A= NP_001369559.1:n.1260-5199A=
NM_001382631.1:c.1309A= NP_001369560.1:p.Asn437=
NM_001382632.1:c.1201A= NP_001369561.1:p.Asn401=
NM_001382633.1:c.1288A= NP_001369562.1:p.Asn430=
NM_001382634.1:c.1129A= NP_001369563.1:p.Asn377=
NM_001382635.1:c.1285A= NP_001369564.1:p.Asn429=
NM_001382636.1:c.970A= NP_001369565.1:p.Asn324=