Canonical Allele Identifier: CA450912346
Gene: SLC17A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.74354160A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73644437A>T , CM000668.2:g.73644437A>T GRCh38
NC_000006.11:g.74354160A>T , CM000668.1:g.74354160A>T GRCh37
NC_000006.10:g.74410881A>T NCBI36
NG_008272.1:g.14578T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.261T>A MANE Select ENSP00000348019.5:p.Ser87=
ENST00000355773.5:c.261T>A ENSP00000348019.5:p.Ser87=
ENST00000481996.1:n.27T>A
NM_012434.4:c.261T>A NP_036566.1:p.Ser87=
XM_005248710.2:c.210T>A XP_005248767.1:p.Ser70=
XM_005248711.1:c.63T>A XP_005248768.1:p.Ser21=
XM_011535750.1:c.261T>A XP_011534052.1:p.Ser87=
XM_011535751.1:c.261T>A XP_011534053.1:p.Ser87=
NM_012434.5:c.261T>A MANE Select NP_036566.1:p.Ser87=
NM_001382629.1:c.61-2513T>A NP_001369558.1:n.61-2513T>A
NM_001382630.1:c.261T>A NP_001369559.1:p.Ser87=
NM_001382631.1:c.282T>A NP_001369560.1:p.Ser94=
NM_001382632.1:c.261T>A NP_001369561.1:p.Ser87=
NM_001382633.1:c.261T>A NP_001369562.1:p.Ser87=
NM_001382634.1:c.261T>A NP_001369563.1:p.Ser87=
NM_001382635.1:c.261T>A NP_001369564.1:p.Ser87=
NM_001382636.1:c.61-2513T>A NP_001369565.1:n.61-2513T>A