Canonical Allele Identifier: CA514277460
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs751987106
MyVariant Identifiers: chr22:g.32500865G>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1758G>A MANE Select ENSP00000266088.4:p.Glu586=
ENST00000266088.8:c.1758G>A ENSP00000266088.4:p.Glu586=
ENST00000543737.2:c.1377G>A ENSP00000444898.1:p.Glu459=
NM_000343.3:c.1758G>A NP_000334.1:p.Glu586=
NM_001256314.1:c.1377G>A NP_001243243.1:p.Glu459=
XR_938173.1:n.591+1960C>T
XR_938174.1:n.486+14977C>T
NM_000343.4:c.1758G>A MANE Select NP_000334.1:p.Glu586=
NM_001256314.2:c.1377G>A NP_001243243.1:p.Glu459=
Search 100 bp 5'
Search 100 bp 3'