Canonical Allele Identifier: CA122781
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12907
ClinVar RCV Id: RCV000013770
dbSNP Id: rs121912668
gnomAD v4: 22-32043363-G-A
MyVariant Identifiers: chr22:g.32439350G>A (hg19) chr22:g.32043363G>A (hg38)
PubMed: PMID:2008213 PMID:8195156 PMID:8844006
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043363G>A , CM000684.2:g.32043363G>A GRCh38
NC_000022.10:g.32439350G>A , CM000684.1:g.32439350G>A GRCh37
NC_000022.9:g.30769350G>A NCBI36
NG_017045.1:g.5332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.82G>A MANE Select ENSP00000266088.4:p.Asp28Asn
ENST00000266088.8:c.82G>A ENSP00000266088.4:p.Asp28Asn
NM_000343.3:c.82G>A NP_000334.1:p.Asp28Asn
XM_011530331.1:c.82G>A XP_011528633.1:p.Asp28Asn
NM_000343.4:c.82G>A MANE Select NP_000334.1:p.Asp28Asn
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