Canonical Allele Identifier: CA2575055402
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6329706-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329706C>A , CM000674.2:g.6329706C>A GRCh38
NC_000012.11:g.6438872C>A , CM000674.1:g.6438872C>A GRCh37
NC_000012.10:g.6309133C>A NCBI36
NG_007506.1:g.17390G>T , LRG_193:g.17390G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.2158+72G>T
ENST00000437813.8:c.*518+72G>T ENSP00000513672.1:n.*518+72G>T
ENST00000440083.7:c.1276+72G>T ENSP00000413224.3:n.1276+72G>T
ENST00000535958.2:c.*884+72G>T ENSP00000513673.1:n.*884+72G>T
ENST00000698337.1:n.1018+72G>T
ENST00000698338.1:n.1671+72G>T
ENST00000698339.1:c.*552+72G>T ENSP00000513670.1:n.*552+72G>T
ENST00000698340.1:c.*296+72G>T ENSP00000513671.1:n.*296+72G>T
ENST00000162749.7:c.1057+72G>T MANE Select ENSP00000162749.2:n.1057+72G>T
ENST00000162749.6:c.1057+72G>T ENSP00000162749.2:n.1057+72G>T
ENST00000534885.5:c.*534+72G>T ENSP00000441803.1:n.*534+72G>T
ENST00000536717.5:n.961+72G>T
ENST00000540022.5:c.928+72G>T ENSP00000438343.1:n.928+72G>T
ENST00000543359.5:n.469+72G>T
ENST00000543995.5:c.*644+72G>T ENSP00000442405.1:n.*644+72G>T
NM_001065.3:c.1057+72G>T , LRG_193t1:c.1057+72G>T NP_001056.1:n.1057+72G>T
NM_001346091.1:c.733+72G>T NP_001333020.1:n.733+72G>T
NM_001346092.1:c.598+72G>T NP_001333021.1:n.598+72G>T
NR_144351.1:n.1286+72G>T
NM_001065.4:c.1057+72G>T MANE Select NP_001056.1:n.1057+72G>T
NM_001346091.2:c.733+72G>T NP_001333020.1:n.733+72G>T
NM_001346092.2:c.598+72G>T NP_001333021.1:n.598+72G>T
NR_144351.2:n.1245+72G>T