Canonical Allele Identifier: CA383549096
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6333117-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333117C>T , CM000674.2:g.6333117C>T GRCh38
NC_000012.11:g.6442283C>T , CM000674.1:g.6442283C>T GRCh37
NC_000012.10:g.6312544C>T NCBI36
NG_007506.1:g.13979G>A , LRG_193:g.13979G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.537G>A
ENST00000437813.8:c.503G>A ENSP00000513672.1:p.Cys168Tyr
ENST00000440083.7:c.722G>A ENSP00000413224.3:p.Cys241Tyr
ENST00000535958.2:c.*330G>A ENSP00000513673.1:n.*330G>A
ENST00000698339.1:c.503G>A ENSP00000513670.1:p.Cys168Tyr
ENST00000698340.1:c.503G>A ENSP00000513671.1:p.Cys168Tyr
ENST00000162749.7:c.503G>A MANE Select ENSP00000162749.2:p.Cys168Tyr
ENST00000162749.6:c.503G>A ENSP00000162749.2:p.Cys168Tyr
ENST00000366159.8:c.503G>A ENSP00000380389.3:p.Cys168Tyr
ENST00000437813.7:n.464G>A
ENST00000440083.6:c.722G>A ENSP00000413224.2:p.Cys241Tyr
ENST00000534885.5:c.349G>A ENSP00000441803.1:p.Ala117Thr
ENST00000537842.5:n.107G>A
ENST00000539372.5:c.503G>A ENSP00000442059.1:p.Cys168Tyr
ENST00000540022.5:c.374G>A ENSP00000438343.1:p.Cys125Tyr
ENST00000543048.5:c.*114G>A ENSP00000439981.1:n.*114G>A
ENST00000543995.5:c.*90G>A ENSP00000442405.1:n.*90G>A
NM_001065.3:c.503G>A , LRG_193t1:c.503G>A NP_001056.1:p.Cys168Tyr
NM_001346091.1:c.179G>A NP_001333020.1:p.Cys60Tyr
NM_001346092.1:c.-75G>A NP_001333021.1:n.-75G>A
NR_144351.1:n.806G>A
NM_001065.4:c.503G>A MANE Select NP_001056.1:p.Cys168Tyr
NM_001346091.2:c.179G>A NP_001333020.1:p.Cys60Tyr
NM_001346092.2:c.-75G>A NP_001333021.1:n.-75G>A
NR_144351.2:n.765G>A