Canonical Allele Identifier: CA1638223131
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641849G= , CM000668.2:g.73641849G= GRCh38
NC_000006.11:g.74351572G= , CM000668.1:g.74351572G= GRCh37
NC_000006.10:g.74408293G= NCBI36
NG_008272.1:g.17166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.367C= MANE Select ENSP00000348019.5:p.Gln123=
ENST00000355773.5:c.367C= ENSP00000348019.5:p.Gln123=
ENST00000481996.1:n.133C=
NM_012434.4:c.367C= NP_036566.1:p.Gln123=
XM_005248710.2:c.316C= XP_005248767.1:p.Gln106=
XM_005248711.1:c.169C= XP_005248768.1:p.Gln57=
XM_011535750.1:c.367C= XP_011534052.1:p.Gln123=
XM_011535751.1:c.367C= XP_011534053.1:p.Gln123=
NM_012434.5:c.367C= MANE Select NP_036566.1:p.Gln123=
NM_001382629.1:c.136C= NP_001369558.1:p.Gln46=
NM_001382630.1:c.367C= NP_001369559.1:p.Gln123=
NM_001382631.1:c.388C= NP_001369560.1:p.Gln130=
NM_001382632.1:c.367C= NP_001369561.1:p.Gln123=
NM_001382633.1:c.367C= NP_001369562.1:p.Gln123=
NM_001382634.1:c.367C= NP_001369563.1:p.Gln123=
NM_001382635.1:c.367C= NP_001369564.1:p.Gln123=
NM_001382636.1:c.136C= NP_001369565.1:p.Gln46=