Canonical Allele Identifier: CA411314770
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1347448
ClinVar RCV Id: RCV002041700
dbSNP Id: rs1396167742
gnomAD v2: 22-32500839-G-A
MyVariant Identifiers: chr22:g.32500839G>A (hg19) chr22:g.32104852G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104852G>A , CM000684.2:g.32104852G>A GRCh38
NC_000022.10:g.32500839G>A , CM000684.1:g.32500839G>A GRCh37
NC_000022.9:g.30830839G>A NCBI36
NG_017045.1:g.66821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1732G>A MANE Select ENSP00000266088.4:p.Glu578Lys
ENST00000266088.8:c.1732G>A ENSP00000266088.4:p.Glu578Lys
ENST00000543737.2:c.1351G>A ENSP00000444898.1:p.Glu451Lys
NM_000343.3:c.1732G>A NP_000334.1:p.Glu578Lys
NM_001256314.1:c.1351G>A NP_001243243.1:p.Glu451Lys
XR_938173.1:n.591+1986C>T
XR_938174.1:n.486+15003C>T
NM_000343.4:c.1732G>A MANE Select NP_000334.1:p.Glu578Lys
NM_001256314.2:c.1351G>A NP_001243243.1:p.Glu451Lys
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Search 100 bp 3'