Canonical Allele Identifier: CA1638223913
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600417G= , CM000668.2:g.73600417G= GRCh38
NC_000006.11:g.74310140G= , CM000668.1:g.74310140G= GRCh37
NC_000006.10:g.74366861G= NCBI36
NG_008272.1:g.58598C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1284C= MANE Select ENSP00000348019.5:p.Ile428=
ENST00000355773.5:c.1284C= ENSP00000348019.5:p.Ile428=
NM_012434.4:c.1284C= NP_036566.1:p.Ile428=
XM_005248710.2:c.1233C= XP_005248767.1:p.Ile411=
XM_005248711.1:c.1086C= XP_005248768.1:p.Ile362=
XM_011535750.1:c.1136C= XP_011534052.1:p.Ser379=
NM_012434.5:c.1284C= MANE Select NP_036566.1:p.Ile428=
NM_001382629.1:c.1053C= NP_001369558.1:p.Ile351=
NM_001382630.1:c.1260-5203C= NP_001369559.1:n.1260-5203C=
NM_001382631.1:c.1305C= NP_001369560.1:p.Ile435=
NM_001382632.1:c.1197C= NP_001369561.1:p.Ile399=
NM_001382633.1:c.1284C= NP_001369562.1:p.Ile428=
NM_001382634.1:c.1125C= NP_001369563.1:p.Ile375=
NM_001382635.1:c.1281C= NP_001369564.1:p.Ile427=
NM_001382636.1:c.966C= NP_001369565.1:p.Ile322=