Canonical Allele Identifier: CA2401804263
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104878G= , CM000684.2:g.32104878G= GRCh38
NC_000022.10:g.32500865G= , CM000684.1:g.32500865G= GRCh37
NC_000022.9:g.30830865G= NCBI36
NG_017045.1:g.66847G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1758G= MANE Select ENSP00000266088.4:p.Glu586=
ENST00000266088.8:c.1758G= ENSP00000266088.4:p.Glu586=
ENST00000543737.2:c.1377G= ENSP00000444898.1:p.Glu459=
NM_000343.3:c.1758G= NP_000334.1:p.Glu586=
NM_001256314.1:c.1377G= NP_001243243.1:p.Glu459=
XR_938173.1:n.591+1960C=
XR_938174.1:n.486+14977C=
NM_000343.4:c.1758G= MANE Select NP_000334.1:p.Glu586=
NM_001256314.2:c.1377G= NP_001243243.1:p.Glu459=