Canonical Allele Identifier: CA411314868
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416750
ClinVar RCV Id: RCV001935874
dbSNP Id: rs199727071
gnomAD v2: 22-32500872-G-T
gnomAD v3: 22-32104885-G-T
gnomAD v4: 22-32104885-G-T
MyVariant Identifiers: chr22:g.32500872G>T (hg19) chr22:g.32104885G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104885G>T , CM000684.2:g.32104885G>T GRCh38
NC_000022.10:g.32500872G>T , CM000684.1:g.32500872G>T GRCh37
NC_000022.9:g.30830872G>T NCBI36
NG_017045.1:g.66854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1765G>T MANE Select ENSP00000266088.4:p.Glu589Ter
ENST00000266088.8:c.1765G>T ENSP00000266088.4:p.Glu589Ter
ENST00000543737.2:c.1384G>T ENSP00000444898.1:p.Glu462Ter
NM_000343.3:c.1765G>T NP_000334.1:p.Glu589Ter
NM_001256314.1:c.1384G>T NP_001243243.1:p.Glu462Ter
XR_938173.1:n.591+1953C>A
XR_938174.1:n.486+14970C>A
NM_000343.4:c.1765G>T MANE Select NP_000334.1:p.Glu589Ter
NM_001256314.2:c.1384G>T NP_001243243.1:p.Glu462Ter
Search 100 bp 5'
Search 100 bp 3'