Canonical Allele Identifier: CA10198305
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1347286
ClinVar RCV Id: RCV002033070
dbSNP Id: rs185883847
ExAC: 22:32500831 C / A
gnomAD v4: 22-32104844-C-A
MyVariant Identifiers: chr22:g.32500831C>A (hg19) chr22:g.32104844C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104844C>A , CM000684.2:g.32104844C>A GRCh38
NC_000022.10:g.32500831C>A , CM000684.1:g.32500831C>A GRCh37
NC_000022.9:g.30830831C>A NCBI36
NG_017045.1:g.66813C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1724C>A MANE Select ENSP00000266088.4:p.Ala575Glu
ENST00000266088.8:c.1724C>A ENSP00000266088.4:p.Ala575Glu
ENST00000543737.2:c.1343C>A ENSP00000444898.1:p.Ala448Glu
NM_000343.3:c.1724C>A NP_000334.1:p.Ala575Glu
NM_001256314.1:c.1343C>A NP_001243243.1:p.Ala448Glu
XR_938173.1:n.591+1994G>T
XR_938174.1:n.486+15011G>T
NM_000343.4:c.1724C>A MANE Select NP_000334.1:p.Ala575Glu
NM_001256314.2:c.1343C>A NP_001243243.1:p.Ala448Glu
Search 100 bp 5'
Search 100 bp 3'