Canonical Allele Identifier: CA117389

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 5303
• ClinVar RCV Id: RCV000005625 ; RCV000005626 ; RCV000255118 ; RCV000999848 ; RCV001199863 ; RCV002054419 ; RCV002251881
• dbSNP Id: rs72553883
• ExAC: 17:16843729 G / T
• gnomAD v2: 17-16843729-G-T
• gnomAD v3: 17-16940415-G-T
• gnomAD v4: 17-16940415-G-T
• MyVariant Identifiers: chr17:g.16843729G>T (hg19) ; chr17:g.16940415G>T (hg38)
• PubMed: PMID:8072530 ; PMID:15077010 ; PMID:16007086 ; PMID:16007087 ; PMID:16299065 ; PMID:17947292 ; PMID:18496551 ; PMID:18509552 ; PMID:19605846

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16940415G>T , CM000679.2:g.16940415G>T	GRCh38
NC_000017.10:g.16843729G>T , CM000679.1:g.16843729G>T	GRCh37
NC_000017.9:g.16784454G>T	NCBI36
NG_007281.1:g.36674C>A , LRG_120:g.36674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.542C>A MANE Select	ENSP00000261652.2:p.Ala181Glu
ENST00000261652.6:c.542C>A	ENSP00000261652.2:p.Ala181Glu
ENST00000579009.1:n.648C>A
ENST00000579315.5:c.446-7239C>A	ENSP00000464069.1:n.446-7239C>A
ENST00000582931.5:n.350-7478C>A
ENST00000583789.1:c.404C>A	ENSP00000462952.1:p.Ala135Glu
ENST00000584950.5:c.404C>A	ENSP00000463582.1:p.Ala135Glu
NM_012452.2:c.542C>A , LRG_120t1:c.542C>A	NP_036584.1:p.Ala181Glu
NM_012452.3:c.542C>A MANE Select	NP_036584.1:p.Ala181Glu