Canonical Allele Identifier: CA1638234797
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621896C= , CM000668.2:g.73621896C= GRCh38
NC_000006.11:g.74331619C= , CM000668.1:g.74331619C= GRCh37
NC_000006.10:g.74388340C= NCBI36
NG_008272.1:g.37119G=

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.886G= MANE Select ENSP00000348019.5:p.Val296=
ENST00000355773.5:c.886G= ENSP00000348019.5:p.Val296=
NM_012434.4:c.886G= NP_036566.1:p.Val296=
XM_005248710.2:c.835G= XP_005248767.1:p.Val279=
XM_005248711.1:c.688G= XP_005248768.1:p.Val230=
XM_011535750.1:c.886G= XP_011534052.1:p.Val296=
NM_012434.5:c.886G= MANE Select NP_036566.1:p.Val296=
NM_001382629.1:c.655G= NP_001369558.1:p.Val219=
NM_001382630.1:c.886G= NP_001369559.1:p.Val296=
NM_001382631.1:c.907G= NP_001369560.1:p.Val303=
NM_001382632.1:c.799G= NP_001369561.1:p.Val267=
NM_001382633.1:c.886G= NP_001369562.1:p.Val296=
NM_001382634.1:c.820-6449G= NP_001369563.1:n.820-6449G=
NM_001382635.1:c.883G= NP_001369564.1:p.Val295=
NM_001382636.1:c.568G= NP_001369565.1:p.Val190=