Canonical Allele Identifier: CA514276545
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1114047
ClinVar RCV Id: RCV001441596
dbSNP Id: rs2149483365
MyVariant Identifiers: chr22:g.32445947T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049960T>C , CM000684.2:g.32049960T>C GRCh38
NC_000022.10:g.32445947T>C , CM000684.1:g.32445947T>C GRCh37
NC_000022.9:g.30775947T>C NCBI36
NG_017045.1:g.11929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.153T>C MANE Select ENSP00000266088.4:p.Asn51=
ENST00000266088.8:c.153T>C ENSP00000266088.4:p.Asn51=
NM_000343.3:c.153T>C NP_000334.1:p.Asn51=
XM_011530331.1:c.153T>C XP_011528633.1:p.Asn51=
NM_000343.4:c.153T>C MANE Select NP_000334.1:p.Asn51=
Search 100 bp 5'
Search 100 bp 3'