Canonical Allele Identifier: CA2326075498
Community Standard Title: NM_000453.3(SLC5A5):c.816C= (p.Cys272=)
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17877840C= , CM000681.2:g.17877840C= GRCh38
NC_000019.9:g.17988649C= , CM000681.1:g.17988649C= GRCh37
NC_000019.8:g.17849649C= NCBI36
NG_012930.1:g.10868C=

Transcript Alleles

HGVS Amino-acid Change
NM_000453.3:c.816C= MANE Select NP_000444.1:p.Cys272=
ENST00000222248.4:c.816C= MANE Select ENSP00000222248.2:p.Cys272=
NM_000453.2:c.816C= NP_000444.1:p.Cys272=
ENST00000222248.3:c.816C= ENSP00000222248.2:p.Cys272=
XM_011528192.1:c.816C= XP_011526494.1:p.Cys272=
XM_011528192.2:c.816C= XP_011526494.1:p.Cys272=
XM_011528193.1:c.549C= XP_011526495.1:p.Cys183=
XM_011528193.3:c.549C= XP_011526495.1:p.Cys183=
XM_011528194.1:c.450C= XP_011526496.1:p.Cys150=
XM_011528194.3:c.450C= XP_011526496.1:p.Cys150=
XM_017027158.1:c.549C= XP_016882647.1:p.Cys183=