Canonical Allele Identifier: CA10197869
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450841
ClinVar RCV Id: RCV002021846 RCV002563600
dbSNP Id: rs773674977
ExAC: 22:32445949 G / A
gnomAD v2: 22-32445949-G-A
gnomAD v4: 22-32049962-G-A
COSMIC: COSM2938869
MyVariant Identifiers: chr22:g.32445949G>A (hg19) chr22:g.32049962G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049962G>A , CM000684.2:g.32049962G>A GRCh38
NC_000022.10:g.32445949G>A , CM000684.1:g.32445949G>A GRCh37
NC_000022.9:g.30775949G>A NCBI36
NG_017045.1:g.11931G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.155G>A MANE Select ENSP00000266088.4:p.Arg52His
ENST00000266088.8:c.155G>A ENSP00000266088.4:p.Arg52His
NM_000343.3:c.155G>A NP_000334.1:p.Arg52His
XM_011530331.1:c.155G>A XP_011528633.1:p.Arg52His
NM_000343.4:c.155G>A MANE Select NP_000334.1:p.Arg52His
Search 100 bp 5'
Search 100 bp 3'