Canonical Allele Identifier: CA1638234795
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621889T= , CM000668.2:g.73621889T= GRCh38
NC_000006.11:g.74331612T= , CM000668.1:g.74331612T= GRCh37
NC_000006.10:g.74388333T= NCBI36
NG_008272.1:g.37126A=

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.893A= MANE Select ENSP00000348019.5:p.His298=
ENST00000355773.5:c.893A= ENSP00000348019.5:p.His298=
NM_012434.4:c.893A= NP_036566.1:p.His298=
XM_005248710.2:c.842A= XP_005248767.1:p.His281=
XM_005248711.1:c.695A= XP_005248768.1:p.His232=
XM_011535750.1:c.893A= XP_011534052.1:p.His298=
NM_012434.5:c.893A= MANE Select NP_036566.1:p.His298=
NM_001382629.1:c.662A= NP_001369558.1:p.His221=
NM_001382630.1:c.893A= NP_001369559.1:p.His298=
NM_001382631.1:c.914A= NP_001369560.1:p.His305=
NM_001382632.1:c.806A= NP_001369561.1:p.His269=
NM_001382633.1:c.893A= NP_001369562.1:p.His298=
NM_001382634.1:c.820-6442A= NP_001369563.1:n.820-6442A=
NM_001382635.1:c.890A= NP_001369564.1:p.His297=
NM_001382636.1:c.575A= NP_001369565.1:p.His192=