Canonical Allele Identifier: CA1638223265
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641916C= , CM000668.2:g.73641916C= GRCh38
NC_000006.11:g.74351639C= , CM000668.1:g.74351639C= GRCh37
NC_000006.10:g.74408360C= NCBI36
NG_008272.1:g.17099G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.300G= MANE Select ENSP00000348019.5:p.Lys100=
ENST00000355773.5:c.300G= ENSP00000348019.5:p.Lys100=
ENST00000481996.1:n.66G=
NM_012434.4:c.300G= NP_036566.1:p.Lys100=
XM_005248710.2:c.249G= XP_005248767.1:p.Lys83=
XM_005248711.1:c.102G= XP_005248768.1:p.Lys34=
XM_011535750.1:c.300G= XP_011534052.1:p.Lys100=
XM_011535751.1:c.300G= XP_011534053.1:p.Lys100=
NM_012434.5:c.300G= MANE Select NP_036566.1:p.Lys100=
NM_001382629.1:c.69G= NP_001369558.1:p.Lys23=
NM_001382630.1:c.300G= NP_001369559.1:p.Lys100=
NM_001382631.1:c.321G= NP_001369560.1:p.Lys107=
NM_001382632.1:c.300G= NP_001369561.1:p.Lys100=
NM_001382633.1:c.300G= NP_001369562.1:p.Lys100=
NM_001382634.1:c.300G= NP_001369563.1:p.Lys100=
NM_001382635.1:c.300G= NP_001369564.1:p.Lys100=
NM_001382636.1:c.69G= NP_001369565.1:p.Lys23=