Canonical Allele Identifier: CA2401780580
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049962G= , CM000684.2:g.32049962G= GRCh38
NC_000022.10:g.32445949G= , CM000684.1:g.32445949G= GRCh37
NC_000022.9:g.30775949G= NCBI36
NG_017045.1:g.11931G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.155G= MANE Select ENSP00000266088.4:p.Arg52=
ENST00000266088.8:c.155G= ENSP00000266088.4:p.Arg52=
NM_000343.3:c.155G= NP_000334.1:p.Arg52=
XM_011530331.1:c.155G= XP_011528633.1:p.Arg52=
NM_000343.4:c.155G= MANE Select NP_000334.1:p.Arg52=