Canonical Allele Identifier: CA1638224248
Gene: SLC17A5 HGNC NCBI

Linked Data

dbSNP Id: rs1767019446

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600695C>T , CM000668.2:g.73600695C>T GRCh38
NC_000006.11:g.74310418C>T , CM000668.1:g.74310418C>T GRCh37
NC_000006.10:g.74367139C>T NCBI36
NG_008272.1:g.58320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1260-254G>A MANE Select ENSP00000348019.5:n.1260-254G>A
ENST00000355773.5:c.1260-254G>A ENSP00000348019.5:n.1260-254G>A
NM_012434.4:c.1260-254G>A NP_036566.1:n.1260-254G>A
XM_005248710.2:c.1209-254G>A XP_005248767.1:n.1209-254G>A
XM_005248711.1:c.1062-254G>A XP_005248768.1:n.1062-254G>A
XM_011535750.1:c.1112-254G>A XP_011534052.1:n.1112-254G>A
NM_012434.5:c.1260-254G>A MANE Select NP_036566.1:n.1260-254G>A
NM_001382629.1:c.1029-254G>A NP_001369558.1:n.1029-254G>A
NM_001382630.1:c.1260-5481G>A NP_001369559.1:n.1260-5481G>A
NM_001382631.1:c.1281-254G>A NP_001369560.1:n.1281-254G>A
NM_001382632.1:c.1173-254G>A NP_001369561.1:n.1173-254G>A
NM_001382633.1:c.1260-254G>A NP_001369562.1:n.1260-254G>A
NM_001382634.1:c.1101-254G>A NP_001369563.1:n.1101-254G>A
NM_001382635.1:c.1257-254G>A NP_001369564.1:n.1257-254G>A
NM_001382636.1:c.942-254G>A NP_001369565.1:n.942-254G>A