Canonical Allele Identifier: CA1638240628
Community Standard Title: NM_012434.5(SLC17A5):c.115C= (p.Arg39=)
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644583G= , CM000668.2:g.73644583G= GRCh38
NC_000006.11:g.74354306G= , CM000668.1:g.74354306G= GRCh37
NC_000006.10:g.74411027G= NCBI36
NG_008272.1:g.14432C=

Transcript Alleles

HGVS Amino-acid Change
NM_012434.5:c.115C= MANE Select NP_036566.1:p.Arg39=
ENST00000355773.6:c.115C= MANE Select ENSP00000348019.5:p.Arg39=
NM_001382629.1:c.61-2659C= NP_001369558.1:n.61-2659C=
NM_001382630.1:c.115C= NP_001369559.1:p.Arg39=
NM_001382631.1:c.136C= NP_001369560.1:p.Arg46=
NM_001382632.1:c.115C= NP_001369561.1:p.Arg39=
NM_001382633.1:c.115C= NP_001369562.1:p.Arg39=
NM_001382634.1:c.115C= NP_001369563.1:p.Arg39=
NM_001382635.1:c.115C= NP_001369564.1:p.Arg39=
NM_001382636.1:c.61-2659C= NP_001369565.1:n.61-2659C=
NM_012434.4:c.115C= NP_036566.1:p.Arg39=
ENST00000355773.5:c.115C= ENSP00000348019.5:p.Arg39=
XM_005248710.2:c.64C= XP_005248767.1:p.Arg22=
XM_005248711.1:c.-84C= XP_005248768.1:n.-84C=
XM_011535750.1:c.115C= XP_011534052.1:p.Arg39=
XM_011535751.1:c.115C= XP_011534053.1:p.Arg39=