Canonical Allele Identifier: CA383549768
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1172858684
gnomAD v3: 12-6333351-G-C
gnomAD v4: 12-6333351-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333351G>C , CM000674.2:g.6333351G>C GRCh38
NC_000012.11:g.6442517G>C , CM000674.1:g.6442517G>C GRCh37
NC_000012.10:g.6312778G>C NCBI36
NG_007506.1:g.13745C>G , LRG_193:g.13745C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.506+16C>G
ENST00000437813.8:c.472+16C>G ENSP00000513672.1:n.472+16C>G
ENST00000440083.7:c.488C>G ENSP00000413224.3:p.Pro163Arg
ENST00000535958.2:c.*299+16C>G ENSP00000513673.1:n.*299+16C>G
ENST00000698339.1:c.472+16C>G ENSP00000513670.1:n.472+16C>G
ENST00000698340.1:c.472+16C>G ENSP00000513671.1:n.472+16C>G
ENST00000162749.7:c.472+16C>G MANE Select ENSP00000162749.2:n.472+16C>G
ENST00000162749.6:c.472+16C>G ENSP00000162749.2:n.472+16C>G
ENST00000366159.8:c.472+16C>G ENSP00000380389.3:n.472+16C>G
ENST00000437813.7:n.433+16C>G
ENST00000440083.6:c.488C>G ENSP00000413224.2:p.Pro163Arg
ENST00000534885.5:c.318+16C>G ENSP00000441803.1:n.318+16C>G
ENST00000537842.5:n.76+16C>G
ENST00000539372.5:c.472+16C>G ENSP00000442059.1:n.472+16C>G
ENST00000540022.5:c.343+16C>G ENSP00000438343.1:n.343+16C>G
ENST00000543048.5:c.*83+16C>G ENSP00000439981.1:n.*83+16C>G
ENST00000543995.5:c.*59+16C>G ENSP00000442405.1:n.*59+16C>G
NM_001065.3:c.472+16C>G , LRG_193t1:c.472+16C>G NP_001056.1:n.472+16C>G
NM_001346091.1:c.148+16C>G NP_001333020.1:n.148+16C>G
NM_001346092.1:c.-106+16C>G NP_001333021.1:n.-106+16C>G
NR_144351.1:n.775+16C>G
NM_001065.4:c.472+16C>G MANE Select NP_001056.1:n.472+16C>G
NM_001346091.2:c.148+16C>G NP_001333020.1:n.148+16C>G
NM_001346092.2:c.-106+16C>G NP_001333021.1:n.-106+16C>G
NR_144351.2:n.734+16C>G