Canonical Allele Identifier: CA10198296
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2138440
ClinVar RCV Id: RCV003041412
dbSNP Id: rs754586981
ExAC: 22:32500779 C / T
gnomAD v2: 22-32500779-C-T
gnomAD v4: 22-32104792-C-T
MyVariant Identifiers: chr22:g.32500779C>T (hg19) chr22:g.32104792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104792C>T , CM000684.2:g.32104792C>T GRCh38
NC_000022.10:g.32500779C>T , CM000684.1:g.32500779C>T GRCh37
NC_000022.9:g.30830779C>T NCBI36
NG_017045.1:g.66761C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1672C>T MANE Select ENSP00000266088.4:p.Arg558Cys
ENST00000266088.8:c.1672C>T ENSP00000266088.4:p.Arg558Cys
ENST00000543737.2:c.1291C>T ENSP00000444898.1:p.Arg431Cys
NM_000343.3:c.1672C>T NP_000334.1:p.Arg558Cys
NM_001256314.1:c.1291C>T NP_001243243.1:p.Arg431Cys
XR_938173.1:n.591+2046G>A
XR_938174.1:n.486+15063G>A
NM_000343.4:c.1672C>T MANE Select NP_000334.1:p.Arg558Cys
NM_001256314.2:c.1291C>T NP_001243243.1:p.Arg431Cys
Search 100 bp 5'
Search 100 bp 3'