Canonical Allele Identifier: CA10197870
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2913545
ClinVar RCV Id: RCV003627473
dbSNP Id: rs201673887
ExAC: 22:32445956 T / C
gnomAD v2: 22-32445956-T-C
gnomAD v3: 22-32049969-T-C
gnomAD v4: 22-32049969-T-C
MyVariant Identifiers: chr22:g.32445956T>C (hg19) chr22:g.32049969T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049969T>C , CM000684.2:g.32049969T>C GRCh38
NC_000022.10:g.32445956T>C , CM000684.1:g.32445956T>C GRCh37
NC_000022.9:g.30775956T>C NCBI36
NG_017045.1:g.11938T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.162T>C MANE Select ENSP00000266088.4:p.Thr54=
ENST00000266088.8:c.162T>C ENSP00000266088.4:p.Thr54=
NM_000343.3:c.162T>C NP_000334.1:p.Thr54=
XM_011530331.1:c.162T>C XP_011528633.1:p.Thr54=
NM_000343.4:c.162T>C MANE Select NP_000334.1:p.Thr54=
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