Canonical Allele Identifier: CA1638223838
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73600375G= , CM000668.2:g.73600375G= GRCh38
NC_000006.11:g.74310098G= , CM000668.1:g.74310098G= GRCh37
NC_000006.10:g.74366819G= NCBI36
NG_008272.1:g.58640C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1326C= MANE Select ENSP00000348019.5:p.Val442=
ENST00000355773.5:c.1326C= ENSP00000348019.5:p.Val442=
NM_012434.4:c.1326C= NP_036566.1:p.Val442=
XM_005248710.2:c.1275C= XP_005248767.1:p.Val425=
XM_005248711.1:c.1128C= XP_005248768.1:p.Val376=
XM_011535750.1:c.1178C= XP_011534052.1:p.Ser393=
NM_012434.5:c.1326C= MANE Select NP_036566.1:p.Val442=
NM_001382629.1:c.1095C= NP_001369558.1:p.Val365=
NM_001382630.1:c.1260-5161C= NP_001369559.1:n.1260-5161C=
NM_001382631.1:c.1347C= NP_001369560.1:p.Val449=
NM_001382632.1:c.1239C= NP_001369561.1:p.Val413=
NM_001382633.1:c.1326C= NP_001369562.1:p.Val442=
NM_001382634.1:c.1167C= NP_001369563.1:p.Val389=
NM_001382635.1:c.1323C= NP_001369564.1:p.Val441=
NM_001382636.1:c.1008C= NP_001369565.1:p.Val336=