Canonical Allele Identifier: CA2430876

Gene: TLR9

Linked Data

• dbSNP Id: rs55993803
• ExAC: 3:52258188 C / T
• gnomAD v2: 3-52258188-C-T
• gnomAD v3: 3-52224172-C-T
• gnomAD v4: 3-52224172-C-T
• MyVariant Identifiers: chr3:g.52258188C>T (hg19) ; chr3:g.52224172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52224172C>T , CM000665.2:g.52224172C>T	GRCh38
NC_000003.11:g.52258188C>T , CM000665.1:g.52258188C>T	GRCh37
NC_000003.10:g.52233228C>T	NCBI36
NG_033933.1:g.6992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360658.3:c.144G>A MANE Select	ENSP00000353874.2:p.Leu48=
ENST00000360658.2:c.144G>A	ENSP00000353874.2:p.Leu48=
ENST00000478201.1:c.318G>A
ENST00000494383.1:c.604G>A
NM_017442.3:c.144G>A	NP_059138.1:p.Leu48=
NM_017442.4:c.144G>A MANE Select	NP_059138.1:p.Leu48=