Canonical Allele Identifier: CA326799805
Gene: TLR8 HGNC NCBI
TLR8-AS1 HGNC NCBI
ClinVar RCV:
RCV004167106
ClinVar Variation:
2323956
dbSNP:
375512332
gnomAD v2:
X:12937355 A / T
gnomAD v4:
chrX-12919236-A-T
Joint Max Group AF 0.00003617 (NFE)
Exomes Max Group AF 0.00003847 (NFE)
MyVariant.info:
GRCh38 chrX:g.12919236A>T
GRCh37 chrX:g.12937355A>T
Revel Score:
ENST00000218032 (MANE Select) 0.314
ENST00000311912 0.314
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.12919236A>T , CM000685.2:g.12919236A>T GRCh38
NC_000023.10:g.12937355A>T , CM000685.1:g.12937355A>T GRCh37
NC_000023.9:g.12847276A>T NCBI36
NG_012882.2:g.17617A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218032.7:c.196A>T (TLR8) MANE Select ENSP00000218032.7:p.Thr66Ser
ENST00000218032.6:c.196A>T (TLR8) ENSP00000218032.6:p.Thr66Ser
ENST00000311912.5:c.250A>T (TLR8) ENSP00000312082.5:p.Thr84Ser
NM_016610.3:c.250A>T (TLR8) NP_057694.2:p.Thr84Ser
NM_138636.5:c.196A>T (TLR8) MANE Select NP_619542.1:p.Thr66Ser
NR_030727.1:n.241-10903T>A (TLR8-AS1)
XM_011545529.1:c.250A>T (TLR8) XP_011543831.1:p.Thr84Ser
XM_011545530.1:c.250A>T (TLR8) XP_011543832.1:p.Thr84Ser
XM_011545530.2:c.250A>T (TLR8) XP_011543832.1:p.Thr84Ser
NM_016610.4:c.250A>T (TLR8) NP_057694.2:p.Thr84Ser
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