Canonical Allele Identifier: CA411314838
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104870C>A , CM000684.2:g.32104870C>A GRCh38
NC_000022.10:g.32500857C>A , CM000684.1:g.32500857C>A GRCh37
NC_000022.9:g.30830857C>A NCBI36
NG_017045.1:g.66839C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1750C>A MANE Select ENSP00000266088.4:p.Pro584Thr
ENST00000266088.8:c.1750C>A ENSP00000266088.4:p.Pro584Thr
ENST00000543737.2:c.1369C>A ENSP00000444898.1:p.Pro457Thr
NM_000343.3:c.1750C>A NP_000334.1:p.Pro584Thr
NM_001256314.1:c.1369C>A NP_001243243.1:p.Pro457Thr
XR_938173.1:n.591+1968G>T
XR_938174.1:n.486+14985G>T
NM_000343.4:c.1750C>A MANE Select NP_000334.1:p.Pro584Thr
NM_001256314.2:c.1369C>A NP_001243243.1:p.Pro457Thr