Canonical Allele Identifier: CA151364
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127077
dbSNP Id: rs201799893

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104793G>A , CM000684.2:g.32104793G>A GRCh38
NC_000022.10:g.32500780G>A , CM000684.1:g.32500780G>A GRCh37
NC_000022.9:g.30830780G>A NCBI36
NG_017045.1:g.66762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1673G>A MANE Select ENSP00000266088.4:p.Arg558His
ENST00000266088.8:c.1673G>A ENSP00000266088.4:p.Arg558His
ENST00000543737.2:c.1292G>A ENSP00000444898.1:p.Arg431His
NM_000343.3:c.1673G>A NP_000334.1:p.Arg558His
NM_001256314.1:c.1292G>A NP_001243243.1:p.Arg431His
XR_938173.1:n.591+2045C>T
XR_938174.1:n.486+15062C>T
NM_000343.4:c.1673G>A MANE Select NP_000334.1:p.Arg558His
NM_001256314.2:c.1292G>A NP_001243243.1:p.Arg431His