Canonical Allele Identifier: CA383550683
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6333833-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333833C>T , CM000674.2:g.6333833C>T GRCh38
NC_000012.11:g.6442999C>T , CM000674.1:g.6442999C>T GRCh37
NC_000012.10:g.6313260C>T NCBI36
NG_007506.1:g.13263G>A , LRG_193:g.13263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.260G>A
ENST00000437813.8:c.226G>A ENSP00000513672.1:p.Gly76Arg
ENST00000440083.7:c.226G>A ENSP00000413224.3:p.Gly76Arg
ENST00000535958.2:c.*53G>A ENSP00000513673.1:n.*53G>A
ENST00000698339.1:c.226G>A ENSP00000513670.1:p.Gly76Arg
ENST00000698340.1:c.226G>A ENSP00000513671.1:p.Gly76Arg
ENST00000162749.7:c.226G>A MANE Select ENSP00000162749.2:p.Gly76Arg
ENST00000162749.6:c.226G>A ENSP00000162749.2:p.Gly76Arg
ENST00000366159.8:c.226G>A ENSP00000380389.3:p.Gly76Arg
ENST00000437813.7:n.187G>A
ENST00000440083.6:c.226G>A ENSP00000413224.2:p.Gly76Arg
ENST00000534885.5:c.72G>A ENSP00000441803.1:p.Arg24=
ENST00000535958.1:n.472G>A
ENST00000536194.1:c.199G>A ENSP00000442919.1:p.Gly67Arg
ENST00000539372.5:c.226G>A ENSP00000442059.1:p.Gly76Arg
ENST00000540022.5:c.193+258G>A ENSP00000438343.1:n.193+258G>A
ENST00000543048.5:c.214+12G>A ENSP00000439981.1:n.214+12G>A
ENST00000543995.5:c.193+258G>A ENSP00000442405.1:n.193+258G>A
NM_001065.3:c.226G>A , LRG_193t1:c.226G>A NP_001056.1:p.Gly76Arg
NM_001346091.1:c.-99G>A NP_001333020.1:n.-99G>A
NM_001346092.1:c.-352G>A NP_001333021.1:n.-352G>A
NR_144351.1:n.529G>A
NM_001065.4:c.226G>A MANE Select NP_001056.1:p.Gly76Arg
NM_001346091.2:c.-99G>A NP_001333020.1:n.-99G>A
NM_001346092.2:c.-352G>A NP_001333021.1:n.-352G>A
NR_144351.2:n.488G>A