Canonical Allele Identifier: CA411314847
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104874A>T , CM000684.2:g.32104874A>T GRCh38
NC_000022.10:g.32500861A>T , CM000684.1:g.32500861A>T GRCh37
NC_000022.9:g.30830861A>T NCBI36
NG_017045.1:g.66843A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1754A>T MANE Select ENSP00000266088.4:p.Lys585Met
ENST00000266088.8:c.1754A>T ENSP00000266088.4:p.Lys585Met
ENST00000543737.2:c.1373A>T ENSP00000444898.1:p.Lys458Met
NM_000343.3:c.1754A>T NP_000334.1:p.Lys585Met
NM_001256314.1:c.1373A>T NP_001243243.1:p.Lys458Met
XR_938173.1:n.591+1964T>A
XR_938174.1:n.486+14981T>A
NM_000343.4:c.1754A>T MANE Select NP_000334.1:p.Lys585Met
NM_001256314.2:c.1373A>T NP_001243243.1:p.Lys458Met