Canonical Allele Identifier: CA1638223825
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600370G= , CM000668.2:g.73600370G= GRCh38
NC_000006.11:g.74310093G= , CM000668.1:g.74310093G= GRCh37
NC_000006.10:g.74366814G= NCBI36
NG_008272.1:g.58645C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1331C= MANE Select ENSP00000348019.5:p.Ala444=
ENST00000355773.5:c.1331C= ENSP00000348019.5:p.Ala444=
NM_012434.4:c.1331C= NP_036566.1:p.Ala444=
XM_005248710.2:c.1280C= XP_005248767.1:p.Ala427=
XM_005248711.1:c.1133C= XP_005248768.1:p.Ala378=
XM_011535750.1:c.1183C= XP_011534052.1:p.Leu395=
NM_012434.5:c.1331C= MANE Select NP_036566.1:p.Ala444=
NM_001382629.1:c.1100C= NP_001369558.1:p.Ala367=
NM_001382630.1:c.1260-5156C= NP_001369559.1:n.1260-5156C=
NM_001382631.1:c.1352C= NP_001369560.1:p.Ala451=
NM_001382632.1:c.1244C= NP_001369561.1:p.Ala415=
NM_001382633.1:c.1331C= NP_001369562.1:p.Ala444=
NM_001382634.1:c.1172C= NP_001369563.1:p.Ala391=
NM_001382635.1:c.1328C= NP_001369564.1:p.Ala443=
NM_001382636.1:c.1013C= NP_001369565.1:p.Ala338=