Canonical Allele Identifier: CA3135552288
Gene: SLC17A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73610532G= , CM000668.2:g.73610532G= GRCh38
NC_000006.11:g.74320255G= , CM000668.1:g.74320255G= GRCh37
NC_000006.10:g.74376976G= NCBI36
NG_008272.1:g.48483C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1127C= MANE Select ENSP00000348019.5:p.Ala376=
ENST00000355773.5:c.1127C= ENSP00000348019.5:p.Ala376=
NM_012434.4:c.1127C= NP_036566.1:p.Ala376=
XM_005248710.2:c.1076C= XP_005248767.1:p.Ala359=
XM_005248711.1:c.929C= XP_005248768.1:p.Ala310=
XM_011535750.1:c.1111+4783C= XP_011534052.1:n.1111+4783C=
NM_012434.5:c.1127C= MANE Select NP_036566.1:p.Ala376=
NM_001382629.1:c.896C= NP_001369558.1:p.Ala299=
NM_001382630.1:c.1127C= NP_001369559.1:p.Ala376=
NM_001382631.1:c.1148C= NP_001369560.1:p.Ala383=
NM_001382632.1:c.1040C= NP_001369561.1:p.Ala347=
NM_001382633.1:c.1127C= NP_001369562.1:p.Ala376=
NM_001382634.1:c.968C= NP_001369563.1:p.Ala323=
NM_001382635.1:c.1124C= NP_001369564.1:p.Ala375=
NM_001382636.1:c.809C= NP_001369565.1:p.Ala270=