Canonical Allele Identifier: CA944343237
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs373163976
gnomAD v3: 12-6333677-T-G
gnomAD v4: 12-6333677-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333677T>G , CM000674.2:g.6333677T>G GRCh38
NC_000012.11:g.6442843T>G , CM000674.1:g.6442843T>G GRCh37
NC_000012.10:g.6313104T>G NCBI36
NG_007506.1:g.13419A>C , LRG_193:g.13419A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.356+60A>C
ENST00000437813.8:c.322+60A>C ENSP00000513672.1:n.322+60A>C
ENST00000440083.7:c.322+60A>C ENSP00000413224.3:n.322+60A>C
ENST00000535958.2:c.*149+60A>C ENSP00000513673.1:n.*149+60A>C
ENST00000698339.1:c.322+60A>C ENSP00000513670.1:n.322+60A>C
ENST00000698340.1:c.322+60A>C ENSP00000513671.1:n.322+60A>C
ENST00000162749.7:c.322+60A>C MANE Select ENSP00000162749.2:n.322+60A>C
ENST00000162749.6:c.322+60A>C ENSP00000162749.2:n.322+60A>C
ENST00000366159.8:c.322+60A>C ENSP00000380389.3:n.322+60A>C
ENST00000437813.7:n.283+60A>C
ENST00000440083.6:c.322+60A>C ENSP00000413224.2:n.322+60A>C
ENST00000534885.5:c.168+60A>C ENSP00000441803.1:n.168+60A>C
ENST00000536194.1:c.295+60A>C ENSP00000442919.1:n.295+60A>C
ENST00000539372.5:c.322+60A>C ENSP00000442059.1:n.322+60A>C
ENST00000540022.5:c.194-161A>C ENSP00000438343.1:n.194-161A>C
ENST00000543048.5:c.214+168A>C ENSP00000439981.1:n.214+168A>C
ENST00000543995.5:c.194-226A>C ENSP00000442405.1:n.194-226A>C
NM_001065.3:c.322+60A>C , LRG_193t1:c.322+60A>C NP_001056.1:n.322+60A>C
NM_001346091.1:c.-3+60A>C NP_001333020.1:n.-3+60A>C
NM_001346092.1:c.-256+60A>C NP_001333021.1:n.-256+60A>C
NR_144351.1:n.625+60A>C
NM_001065.4:c.322+60A>C MANE Select NP_001056.1:n.322+60A>C
NM_001346091.2:c.-3+60A>C NP_001333020.1:n.-3+60A>C
NM_001346092.2:c.-256+60A>C NP_001333021.1:n.-256+60A>C
NR_144351.2:n.584+60A>C