Canonical Allele Identifier: CA2617248824
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6329709-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329709T>G , CM000674.2:g.6329709T>G GRCh38
NC_000012.11:g.6438875T>G , CM000674.1:g.6438875T>G GRCh37
NC_000012.10:g.6309136T>G NCBI36
NG_007506.1:g.17387A>C , LRG_193:g.17387A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.2158+69A>C
ENST00000437813.8:c.*518+69A>C ENSP00000513672.1:n.*518+69A>C
ENST00000440083.7:c.1276+69A>C ENSP00000413224.3:n.1276+69A>C
ENST00000535958.2:c.*884+69A>C ENSP00000513673.1:n.*884+69A>C
ENST00000698337.1:n.1018+69A>C
ENST00000698338.1:n.1671+69A>C
ENST00000698339.1:c.*552+69A>C ENSP00000513670.1:n.*552+69A>C
ENST00000698340.1:c.*296+69A>C ENSP00000513671.1:n.*296+69A>C
ENST00000162749.7:c.1057+69A>C MANE Select ENSP00000162749.2:n.1057+69A>C
ENST00000162749.6:c.1057+69A>C ENSP00000162749.2:n.1057+69A>C
ENST00000534885.5:c.*534+69A>C ENSP00000441803.1:n.*534+69A>C
ENST00000536717.5:n.961+69A>C
ENST00000540022.5:c.928+69A>C ENSP00000438343.1:n.928+69A>C
ENST00000543359.5:n.469+69A>C
ENST00000543995.5:c.*644+69A>C ENSP00000442405.1:n.*644+69A>C
NM_001065.3:c.1057+69A>C , LRG_193t1:c.1057+69A>C NP_001056.1:n.1057+69A>C
NM_001346091.1:c.733+69A>C NP_001333020.1:n.733+69A>C
NM_001346092.1:c.598+69A>C NP_001333021.1:n.598+69A>C
NR_144351.1:n.1286+69A>C
NM_001065.4:c.1057+69A>C MANE Select NP_001056.1:n.1057+69A>C
NM_001346091.2:c.733+69A>C NP_001333020.1:n.733+69A>C
NM_001346092.2:c.598+69A>C NP_001333021.1:n.598+69A>C
NR_144351.2:n.1245+69A>C