Canonical Allele Identifier: CA1638223896
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600406A= , CM000668.2:g.73600406A= GRCh38
NC_000006.11:g.74310129A= , CM000668.1:g.74310129A= GRCh37
NC_000006.10:g.74366850A= NCBI36
NG_008272.1:g.58609T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1295T= MANE Select ENSP00000348019.5:p.Phe432=
ENST00000355773.5:c.1295T= ENSP00000348019.5:p.Phe432=
NM_012434.4:c.1295T= NP_036566.1:p.Phe432=
XM_005248710.2:c.1244T= XP_005248767.1:p.Phe415=
XM_005248711.1:c.1097T= XP_005248768.1:p.Phe366=
XM_011535750.1:c.1147T= XP_011534052.1:p.Leu383=
NM_012434.5:c.1295T= MANE Select NP_036566.1:p.Phe432=
NM_001382629.1:c.1064T= NP_001369558.1:p.Phe355=
NM_001382630.1:c.1260-5192T= NP_001369559.1:n.1260-5192T=
NM_001382631.1:c.1316T= NP_001369560.1:p.Phe439=
NM_001382632.1:c.1208T= NP_001369561.1:p.Phe403=
NM_001382633.1:c.1295T= NP_001369562.1:p.Phe432=
NM_001382634.1:c.1136T= NP_001369563.1:p.Phe379=
NM_001382635.1:c.1292T= NP_001369564.1:p.Phe431=
NM_001382636.1:c.977T= NP_001369565.1:p.Phe326=