Canonical Allele Identifier: CA2326080515
Community Standard Title: NM_000453.3(SLC5A5):c.1593C= (p.Tyr531=)
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17888397C= , CM000681.2:g.17888397C= GRCh38
NC_000019.9:g.17999206C= , CM000681.1:g.17999206C= GRCh37
NC_000019.8:g.17860206C= NCBI36
NG_012930.1:g.21425C=

Transcript Alleles

HGVS Amino-acid Change
NM_000453.3:c.1593C= MANE Select NP_000444.1:p.Tyr531=
ENST00000222248.4:c.1593C= MANE Select ENSP00000222248.2:p.Tyr531=
NM_000453.2:c.1593C= NP_000444.1:p.Tyr531=
ENST00000222248.3:c.1593C= ENSP00000222248.2:p.Tyr531=
XM_011528192.1:c.1626C= XP_011526494.1:p.Tyr542=
XM_011528192.2:c.1626C= XP_011526494.1:p.Tyr542=
XM_011528193.1:c.1359C= XP_011526495.1:p.Tyr453=
XM_011528193.3:c.1359C= XP_011526495.1:p.Tyr453=
XM_011528194.1:c.1260C= XP_011526496.1:p.Tyr420=
XM_011528194.3:c.1260C= XP_011526496.1:p.Tyr420=
XM_017027158.1:c.1326C= XP_016882647.1:p.Tyr442=