Canonical Allele Identifier: CA10198189
Gene: SLC5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.32091713G>A
GRCh37 chr22:g.32487700G>A
Revel Score:
ENST00000266088 (MANE Select) 0.285
ENST00000543737 0.285
gnomAD v2:
22:32487700 G / A
gnomAD v3:
22:32091713 G / A
gnomAD v4:
chr22-32091713-G-A
Joint Max Group AF 0.07635031 (NFE)
Genomes Max Group AF 0.06884552 (NFE)
Exomes Max Group AF 0.07671943 (NFE)
ClinVar RCV:
RCV000370025
RCV000455310
ClinVar Variation:
341252
dbSNP:
17683430
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32091713G>A , CM000684.2:g.32091713G>A GRCh38
NC_000022.10:g.32487700G>A , CM000684.1:g.32487700G>A GRCh37
NC_000022.9:g.30817700G>A NCBI36
NG_017045.1:g.53682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1231G>A MANE Select ENSP00000266088.4:p.Ala411Thr
ENST00000266088.8:c.1231G>A ENSP00000266088.4:p.Ala411Thr
ENST00000477969.1:n.397G>A
ENST00000543737.2:c.850G>A ENSP00000444898.1:p.Ala284Thr
NM_000343.3:c.1231G>A NP_000334.1:p.Ala411Thr
NM_001256314.1:c.850G>A NP_001243243.1:p.Ala284Thr
XM_011530331.1:c.1231G>A XP_011528633.1:p.Ala411Thr
XR_938173.1:n.591+15125C>T
XR_938174.1:n.487-22910C>T
NM_000343.4:c.1231G>A MANE Select NP_000334.1:p.Ala411Thr
NM_001256314.2:c.850G>A NP_001243243.1:p.Ala284Thr
Search 100 bp 5'
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