Canonical Allele Identifier: CA404770925
Gene: SLC5A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17890931A>T , CM000681.2:g.17890931A>T GRCh38
NC_000019.9:g.18001740A>T , CM000681.1:g.18001740A>T GRCh37
NC_000019.8:g.17862740A>T NCBI36
NG_012930.1:g.23959A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.1697A>T MANE Select ENSP00000222248.2:p.Asp566Val
ENST00000222248.3:c.1697A>T ENSP00000222248.2:p.Asp566Val
NM_000453.2:c.1697A>T NP_000444.1:p.Asp566Val
XM_011528192.1:c.1730A>T XP_011526494.1:p.Asp577Val
XM_011528193.1:c.1463A>T XP_011526495.1:p.Asp488Val
XM_011528194.1:c.1364A>T XP_011526496.1:p.Asp455Val
XM_011528192.2:c.1730A>T XP_011526494.1:p.Asp577Val
XM_011528193.3:c.1463A>T XP_011526495.1:p.Asp488Val
XM_011528194.3:c.1364A>T XP_011526496.1:p.Asp455Val
XM_017027158.1:c.1430A>T XP_016882647.1:p.Asp477Val
NM_000453.3:c.1697A>T MANE Select NP_000444.1:p.Asp566Val