Canonical Allele Identifier: CA514277431
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077182
ClinVar RCV Id: RCV002972698
dbSNP Id: rs2094042357
gnomAD v3: 22-32104812-C-T
gnomAD v4: 22-32104812-C-T
MyVariant Identifiers: chr22:g.32500799C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104812C>T , CM000684.2:g.32104812C>T GRCh38
NC_000022.10:g.32500799C>T , CM000684.1:g.32500799C>T GRCh37
NC_000022.9:g.30830799C>T NCBI36
NG_017045.1:g.66781C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1692C>T MANE Select ENSP00000266088.4:p.Arg564=
ENST00000266088.8:c.1692C>T ENSP00000266088.4:p.Arg564=
ENST00000543737.2:c.1311C>T ENSP00000444898.1:p.Arg437=
NM_000343.3:c.1692C>T NP_000334.1:p.Arg564=
NM_001256314.1:c.1311C>T NP_001243243.1:p.Arg437=
XR_938173.1:n.591+2026G>A
XR_938174.1:n.486+15043G>A
NM_000343.4:c.1692C>T MANE Select NP_000334.1:p.Arg564=
NM_001256314.2:c.1311C>T NP_001243243.1:p.Arg437=
Search 100 bp 5'
Search 100 bp 3'