Canonical Allele Identifier: CA450912756
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74310164C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600441C>A , CM000668.2:g.73600441C>A GRCh38
NC_000006.11:g.74310164C>A , CM000668.1:g.74310164C>A GRCh37
NC_000006.10:g.74366885C>A NCBI36
NG_008272.1:g.58574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1260G>T MANE Select ENSP00000348019.5:p.Ser420=
ENST00000355773.5:c.1260G>T ENSP00000348019.5:p.Ser420=
NM_012434.4:c.1260G>T NP_036566.1:p.Ser420=
XM_005248710.2:c.1209G>T XP_005248767.1:p.Ser403=
XM_005248711.1:c.1062G>T XP_005248768.1:p.Ser354=
XM_011535750.1:c.1112G>T XP_011534052.1:p.Gly371Val
NM_012434.5:c.1260G>T MANE Select NP_036566.1:p.Ser420=
NM_001382629.1:c.1029G>T NP_001369558.1:p.Ser343=
NM_001382630.1:c.1260-5227G>T NP_001369559.1:n.1260-5227G>T
NM_001382631.1:c.1281G>T NP_001369560.1:p.Ser427=
NM_001382632.1:c.1173G>T NP_001369561.1:p.Ser391=
NM_001382633.1:c.1260G>T NP_001369562.1:p.Ser420=
NM_001382634.1:c.1101G>T NP_001369563.1:p.Ser367=
NM_001382635.1:c.1257G>T NP_001369564.1:p.Ser419=
NM_001382636.1:c.942G>T NP_001369565.1:p.Ser314=