Canonical Allele Identifier: CA2326080531
Community Standard Title: NM_000453.3(SLC5A5):c.1626C= (p.Cys542=)
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17888430C= , CM000681.2:g.17888430C= GRCh38
NC_000019.9:g.17999239C= , CM000681.1:g.17999239C= GRCh37
NC_000019.8:g.17860239C= NCBI36
NG_012930.1:g.21458C=

Transcript Alleles

HGVS Amino-acid Change
NM_000453.3:c.1626C= MANE Select NP_000444.1:p.Cys542=
ENST00000222248.4:c.1626C= MANE Select ENSP00000222248.2:p.Cys542=
NM_000453.2:c.1626C= NP_000444.1:p.Cys542=
ENST00000222248.3:c.1626C= ENSP00000222248.2:p.Cys542=
XM_011528192.1:c.1659C= XP_011526494.1:p.Cys553=
XM_011528192.2:c.1659C= XP_011526494.1:p.Cys553=
XM_011528193.1:c.1392C= XP_011526495.1:p.Cys464=
XM_011528193.3:c.1392C= XP_011526495.1:p.Cys464=
XM_011528194.1:c.1293C= XP_011526496.1:p.Cys431=
XM_011528194.3:c.1293C= XP_011526496.1:p.Cys431=
XM_017027158.1:c.1359C= XP_016882647.1:p.Cys453=