Canonical Allele Identifier: CA364713533
Gene: SLC17A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73621884A>T , CM000668.2:g.73621884A>T GRCh38
NC_000006.11:g.74331607A>T , CM000668.1:g.74331607A>T GRCh37
NC_000006.10:g.74388328A>T NCBI36
NG_008272.1:g.37131T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.898T>A MANE Select ENSP00000348019.5:p.Ser300Thr
ENST00000355773.5:c.898T>A ENSP00000348019.5:p.Ser300Thr
NM_012434.4:c.898T>A NP_036566.1:p.Ser300Thr
XM_005248710.2:c.847T>A XP_005248767.1:p.Ser283Thr
XM_005248711.1:c.700T>A XP_005248768.1:p.Ser234Thr
XM_011535750.1:c.898T>A XP_011534052.1:p.Ser300Thr
NM_012434.5:c.898T>A MANE Select NP_036566.1:p.Ser300Thr
NM_001382629.1:c.667T>A NP_001369558.1:p.Ser223Thr
NM_001382630.1:c.898T>A NP_001369559.1:p.Ser300Thr
NM_001382631.1:c.919T>A NP_001369560.1:p.Ser307Thr
NM_001382632.1:c.811T>A NP_001369561.1:p.Ser271Thr
NM_001382633.1:c.898T>A NP_001369562.1:p.Ser300Thr
NM_001382634.1:c.820-6437T>A NP_001369563.1:n.820-6437T>A
NM_001382635.1:c.895T>A NP_001369564.1:p.Ser299Thr
NM_001382636.1:c.580T>A NP_001369565.1:p.Ser194Thr