Canonical Allele Identifier: CA2326077482
Community Standard Title: NM_000453.3(SLC5A5):c.1060A= (p.Thr354=)
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17881961A= , CM000681.2:g.17881961A= GRCh38
NC_000019.9:g.17992770A= , CM000681.1:g.17992770A= GRCh37
NC_000019.8:g.17853770A= NCBI36
NG_012930.1:g.14989A=

Transcript Alleles

HGVS Amino-acid Change
NM_000453.3:c.1060A= MANE Select NP_000444.1:p.Thr354=
ENST00000222248.4:c.1060A= MANE Select ENSP00000222248.2:p.Thr354=
NM_000453.2:c.1060A= NP_000444.1:p.Thr354=
ENST00000222248.3:c.1060A= ENSP00000222248.2:p.Thr354=
XM_011528192.1:c.1093A= XP_011526494.1:p.Thr365=
XM_011528192.2:c.1093A= XP_011526494.1:p.Thr365=
XM_011528193.1:c.826A= XP_011526495.1:p.Thr276=
XM_011528193.3:c.826A= XP_011526495.1:p.Thr276=
XM_011528194.1:c.727A= XP_011526496.1:p.Thr243=
XM_011528194.3:c.727A= XP_011526496.1:p.Thr243=
XM_017027158.1:c.793A= XP_016882647.1:p.Thr265=