Canonical Allele Identifier: CA323383941
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396323
ClinVar RCV Id: RCV001919944
dbSNP Id: rs767673239
gnomAD v2: 22-32445948-C-T
gnomAD v4: 22-32049961-C-T
COSMIC: COSM3553687
MyVariant Identifiers: chr22:g.32445948C>T (hg19) chr22:g.32049961C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049961C>T , CM000684.2:g.32049961C>T GRCh38
NC_000022.10:g.32445948C>T , CM000684.1:g.32445948C>T GRCh37
NC_000022.9:g.30775948C>T NCBI36
NG_017045.1:g.11930C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.154C>T MANE Select ENSP00000266088.4:p.Arg52Cys
ENST00000266088.8:c.154C>T ENSP00000266088.4:p.Arg52Cys
NM_000343.3:c.154C>T NP_000334.1:p.Arg52Cys
XM_011530331.1:c.154C>T XP_011528633.1:p.Arg52Cys
NM_000343.4:c.154C>T MANE Select NP_000334.1:p.Arg52Cys
Search 100 bp 5'
Search 100 bp 3'