Canonical Allele Identifier: CA10198350
Gene: SLC5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.32110063C>G
GRCh37 chr22:g.32506050C>G
Revel Score:
ENST00000266088 (MANE Select) 0.207
ENST00000543737 0.207
gnomAD v2:
22:32506050 C / G
gnomAD v3:
22:32110063 C / G
gnomAD v4:
chr22-32110063-C-G
Joint Max Group AF 0.07619056 (NFE)
Genomes Max Group AF 0.0688829 (NFE)
Exomes Max Group AF 0.07654785 (NFE)
ClinVar RCV:
RCV000318214
RCV000455377
ClinVar Variation:
341263
dbSNP:
33954001
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32110063C>G , CM000684.2:g.32110063C>G GRCh38
NC_000022.10:g.32506050C>G , CM000684.1:g.32506050C>G GRCh37
NC_000022.9:g.30836050C>G NCBI36
NG_017045.1:g.72032C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1845C>G MANE Select ENSP00000266088.4:p.His615Gln
ENST00000266088.8:c.1845C>G ENSP00000266088.4:p.His615Gln
ENST00000543737.2:c.1464C>G ENSP00000444898.1:p.His488Gln
NM_000343.3:c.1845C>G NP_000334.1:p.His615Gln
NM_001256314.1:c.1464C>G NP_001243243.1:p.His488Gln
XR_938172.1:n.487-3121G>C
XR_938173.1:n.487-3121G>C
XR_938174.1:n.486+9792G>C
XR_938172.2:n.491-3121G>C
NM_000343.4:c.1845C>G MANE Select NP_000334.1:p.His615Gln
NM_001256314.2:c.1464C>G NP_001243243.1:p.His488Gln
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