Canonical Allele Identifier: CA383551050
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6334165-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6334165C>G , CM000674.2:g.6334165C>G GRCh38
NC_000012.11:g.6443331C>G , CM000674.1:g.6443331C>G GRCh37
NC_000012.10:g.6313592C>G NCBI36
NG_007506.1:g.12931G>C , LRG_193:g.12931G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.153G>C
ENST00000437813.8:c.119G>C ENSP00000513672.1:p.Arg40Thr
ENST00000440083.7:c.119G>C ENSP00000413224.3:p.Arg40Thr
ENST00000535958.2:c.119G>C ENSP00000513673.1:p.Arg40Thr
ENST00000698339.1:c.119G>C ENSP00000513670.1:p.Arg40Thr
ENST00000698340.1:c.119G>C ENSP00000513671.1:p.Arg40Thr
ENST00000162749.7:c.119G>C MANE Select ENSP00000162749.2:p.Arg40Thr
ENST00000162749.6:c.119G>C ENSP00000162749.2:p.Arg40Thr
ENST00000366159.8:c.119G>C ENSP00000380389.3:p.Arg40Thr
ENST00000437813.7:n.80G>C
ENST00000440083.6:c.119G>C ENSP00000413224.2:p.Arg40Thr
ENST00000534885.5:c.40-300G>C ENSP00000441803.1:n.40-300G>C
ENST00000535958.1:n.340G>C
ENST00000536194.1:c.119G>C ENSP00000442919.1:p.Arg40Thr
ENST00000538363.1:n.309G>C
ENST00000539372.5:c.119G>C ENSP00000442059.1:p.Arg40Thr
ENST00000540022.5:c.119G>C ENSP00000438343.1:p.Arg40Thr
ENST00000543048.5:c.119G>C ENSP00000439981.1:p.Arg40Thr
ENST00000543995.5:c.119G>C ENSP00000442405.1:p.Arg40Thr
NM_001065.3:c.119G>C , LRG_193t1:c.119G>C NP_001056.1:p.Arg40Thr
NM_001346091.1:c.-131-300G>C NP_001333020.1:n.-131-300G>C
NM_001346092.1:c.-459G>C NP_001333021.1:n.-459G>C
NR_144351.1:n.422G>C
NM_001065.4:c.119G>C MANE Select NP_001056.1:p.Arg40Thr
NM_001346091.2:c.-131-300G>C NP_001333020.1:n.-131-300G>C
NM_001346092.2:c.-459G>C NP_001333021.1:n.-459G>C
NR_144351.2:n.381G>C