Canonical Allele Identifier: CA383549031
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6333089-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333089G>T , CM000674.2:g.6333089G>T GRCh38
NC_000012.11:g.6442255G>T , CM000674.1:g.6442255G>T GRCh37
NC_000012.10:g.6312516G>T NCBI36
NG_007506.1:g.14007C>A , LRG_193:g.14007C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.565C>A
ENST00000437813.8:c.531C>A ENSP00000513672.1:p.Asn177Lys
ENST00000440083.7:c.750C>A ENSP00000413224.3:p.Asn250Lys
ENST00000535958.2:c.*358C>A ENSP00000513673.1:n.*358C>A
ENST00000698339.1:c.531C>A ENSP00000513670.1:p.Asn177Lys
ENST00000698340.1:c.531C>A ENSP00000513671.1:p.Asn177Lys
ENST00000162749.7:c.531C>A MANE Select ENSP00000162749.2:p.Asn177Lys
ENST00000162749.6:c.531C>A ENSP00000162749.2:p.Asn177Lys
ENST00000366159.8:c.531C>A ENSP00000380389.3:p.Asn177Lys
ENST00000437813.7:n.492C>A
ENST00000440083.6:c.750C>A ENSP00000413224.2:p.Asn250Lys
ENST00000534885.5:c.*8C>A ENSP00000441803.1:n.*8C>A
ENST00000537842.5:n.135C>A
ENST00000539372.5:c.531C>A ENSP00000442059.1:p.Asn177Lys
ENST00000540022.5:c.402C>A ENSP00000438343.1:p.Asn134Lys
ENST00000543048.5:c.*142C>A ENSP00000439981.1:n.*142C>A
ENST00000543359.5:n.17C>A
ENST00000543995.5:c.*118C>A ENSP00000442405.1:n.*118C>A
NM_001065.3:c.531C>A , LRG_193t1:c.531C>A NP_001056.1:p.Asn177Lys
NM_001346091.1:c.207C>A NP_001333020.1:p.Asn69Lys
NM_001346092.1:c.-47C>A NP_001333021.1:n.-47C>A
NR_144351.1:n.834C>A
NM_001065.4:c.531C>A MANE Select NP_001056.1:p.Asn177Lys
NM_001346091.2:c.207C>A NP_001333020.1:p.Asn69Lys
NM_001346092.2:c.-47C>A NP_001333021.1:n.-47C>A
NR_144351.2:n.793C>A