Canonical Allele Identifier: CA2326081796
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17890939C= , CM000681.2:g.17890939C= GRCh38
NC_000019.9:g.18001748C= , CM000681.1:g.18001748C= GRCh37
NC_000019.8:g.17862748C= NCBI36
NG_012930.1:g.23967C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.1705C= MANE Select ENSP00000222248.2:p.Arg569=
ENST00000222248.3:c.1705C= ENSP00000222248.2:p.Arg569=
NM_000453.2:c.1705C= NP_000444.1:p.Arg569=
XM_011528192.1:c.1738C= XP_011526494.1:p.Arg580=
XM_011528193.1:c.1471C= XP_011526495.1:p.Arg491=
XM_011528194.1:c.1372C= XP_011526496.1:p.Arg458=
XM_011528192.2:c.1738C= XP_011526494.1:p.Arg580=
XM_011528193.3:c.1471C= XP_011526495.1:p.Arg491=
XM_011528194.3:c.1372C= XP_011526496.1:p.Arg458=
XM_017027158.1:c.1438C= XP_016882647.1:p.Arg480=
NM_000453.3:c.1705C= MANE Select NP_000444.1:p.Arg569=