Canonical Allele Identifier: CA478113102
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs202063972
gnomAD v2: 12-6442285-G-A
gnomAD v4: 12-6333119-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333119G>A , CM000674.2:g.6333119G>A GRCh38
NC_000012.11:g.6442285G>A , CM000674.1:g.6442285G>A GRCh37
NC_000012.10:g.6312546G>A NCBI36
NG_007506.1:g.13977C>T , LRG_193:g.13977C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.535C>T
ENST00000437813.8:c.501C>T ENSP00000513672.1:p.Thr167=
ENST00000440083.7:c.720C>T ENSP00000413224.3:p.Thr240=
ENST00000535958.2:c.*328C>T ENSP00000513673.1:n.*328C>T
ENST00000698339.1:c.501C>T ENSP00000513670.1:p.Thr167=
ENST00000698340.1:c.501C>T ENSP00000513671.1:p.Thr167=
ENST00000162749.7:c.501C>T MANE Select ENSP00000162749.2:p.Thr167=
ENST00000162749.6:c.501C>T ENSP00000162749.2:p.Thr167=
ENST00000366159.8:c.501C>T ENSP00000380389.3:p.Thr167=
ENST00000437813.7:n.462C>T
ENST00000440083.6:c.720C>T ENSP00000413224.2:p.Thr240=
ENST00000534885.5:c.347C>T ENSP00000441803.1:p.Pro116Leu
ENST00000537842.5:n.105C>T
ENST00000539372.5:c.501C>T ENSP00000442059.1:p.Thr167=
ENST00000540022.5:c.372C>T ENSP00000438343.1:p.Thr124=
ENST00000543048.5:c.*112C>T ENSP00000439981.1:n.*112C>T
ENST00000543995.5:c.*88C>T ENSP00000442405.1:n.*88C>T
NM_001065.3:c.501C>T , LRG_193t1:c.501C>T NP_001056.1:p.Thr167=
NM_001346091.1:c.177C>T NP_001333020.1:p.Thr59=
NM_001346092.1:c.-77C>T NP_001333021.1:n.-77C>T
NR_144351.1:n.804C>T
NM_001065.4:c.501C>T MANE Select NP_001056.1:p.Thr167=
NM_001346091.2:c.177C>T NP_001333020.1:p.Thr59=
NM_001346092.2:c.-77C>T NP_001333021.1:n.-77C>T
NR_144351.2:n.763C>T