Canonical Allele Identifier: CA10198070
Gene: SLC5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.32084587G>A
GRCh37 chr22:g.32480574G>A
gnomAD v2:
22:32480574 G / A
gnomAD v3:
22:32084587 G / A
gnomAD v4:
chr22-32084587-G-A
Joint Max Group AF 0.00005432 (AMR)
Genomes Max Group AF 0.00016987 (AMR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar Allele:
352399
ClinVar RCV:
RCV000322547
ClinVar Variation:
341243
dbSNP:
200849778
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32084587G>A , CM000684.2:g.32084587G>A GRCh38
NC_000022.10:g.32480574G>A , CM000684.1:g.32480574G>A GRCh37
NC_000022.9:g.30810574G>A NCBI36
NG_017045.1:g.46556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.813G>A MANE Select ENSP00000266088.4:p.Thr271=
ENST00000266088.8:c.813G>A ENSP00000266088.4:p.Thr271=
ENST00000486394.1:n.253G>A
ENST00000543737.2:c.432G>A ENSP00000444898.1:p.Thr144=
NM_000343.3:c.813G>A NP_000334.1:p.Thr271=
NM_001256314.1:c.432G>A NP_001243243.1:p.Thr144=
XM_011530331.1:c.813G>A XP_011528633.1:p.Thr271=
XR_938173.1:n.592-15784C>T
XR_938174.1:n.487-15784C>T
NM_000343.4:c.813G>A MANE Select NP_000334.1:p.Thr271=
NM_001256314.2:c.432G>A NP_001243243.1:p.Thr144=
Search 100 bp 5'
Search 100 bp 3'