Canonical Allele Identifier: CA364713175
Gene: SLC17A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621809G>A , CM000668.2:g.73621809G>A GRCh38
NC_000006.11:g.74331532G>A , CM000668.1:g.74331532G>A GRCh37
NC_000006.10:g.74388253G>A NCBI36
NG_008272.1:g.37206C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.973C>T MANE Select ENSP00000348019.5:p.Gln325Ter
ENST00000355773.5:c.973C>T ENSP00000348019.5:p.Gln325Ter
NM_012434.4:c.973C>T NP_036566.1:p.Gln325Ter
XM_005248710.2:c.922C>T XP_005248767.1:p.Gln308Ter
XM_005248711.1:c.775C>T XP_005248768.1:p.Gln259Ter
XM_011535750.1:c.973C>T XP_011534052.1:p.Gln325Ter
NM_012434.5:c.973C>T MANE Select NP_036566.1:p.Gln325Ter
NM_001382629.1:c.742C>T NP_001369558.1:p.Gln248Ter
NM_001382630.1:c.973C>T NP_001369559.1:p.Gln325Ter
NM_001382631.1:c.994C>T NP_001369560.1:p.Gln332Ter
NM_001382632.1:c.886C>T NP_001369561.1:p.Gln296Ter
NM_001382633.1:c.973C>T NP_001369562.1:p.Gln325Ter
NM_001382634.1:c.820-6362C>T NP_001369563.1:n.820-6362C>T
NM_001382635.1:c.970C>T NP_001369564.1:p.Gln324Ter
NM_001382636.1:c.655C>T NP_001369565.1:p.Gln219Ter