Canonical Allele Identifier: CA478113092
Gene: TNFRSF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6442267A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333101A>G , CM000674.2:g.6333101A>G GRCh38
NC_000012.11:g.6442267A>G , CM000674.1:g.6442267A>G GRCh37
NC_000012.10:g.6312528A>G NCBI36
NG_007506.1:g.13995T>C , LRG_193:g.13995T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.553T>C
ENST00000437813.8:c.519T>C ENSP00000513672.1:p.Phe173=
ENST00000440083.7:c.738T>C ENSP00000413224.3:p.Phe246=
ENST00000535958.2:c.*346T>C ENSP00000513673.1:n.*346T>C
ENST00000698339.1:c.519T>C ENSP00000513670.1:p.Phe173=
ENST00000698340.1:c.519T>C ENSP00000513671.1:p.Phe173=
ENST00000162749.7:c.519T>C MANE Select ENSP00000162749.2:p.Phe173=
ENST00000162749.6:c.519T>C ENSP00000162749.2:p.Phe173=
ENST00000366159.8:c.519T>C ENSP00000380389.3:p.Phe173=
ENST00000437813.7:n.480T>C
ENST00000440083.6:c.738T>C ENSP00000413224.2:p.Phe246=
ENST00000534885.5:c.365T>C ENSP00000441803.1:p.Phe122Ser
ENST00000537842.5:n.123T>C
ENST00000539372.5:c.519T>C ENSP00000442059.1:p.Phe173=
ENST00000540022.5:c.390T>C ENSP00000438343.1:p.Phe130=
ENST00000543048.5:c.*130T>C ENSP00000439981.1:n.*130T>C
ENST00000543359.5:n.5T>C
ENST00000543995.5:c.*106T>C ENSP00000442405.1:n.*106T>C
NM_001065.3:c.519T>C , LRG_193t1:c.519T>C NP_001056.1:p.Phe173=
NM_001346091.1:c.195T>C NP_001333020.1:p.Phe65=
NM_001346092.1:c.-59T>C NP_001333021.1:n.-59T>C
NR_144351.1:n.822T>C
NM_001065.4:c.519T>C MANE Select NP_001056.1:p.Phe173=
NM_001346091.2:c.195T>C NP_001333020.1:p.Phe65=
NM_001346092.2:c.-59T>C NP_001333021.1:n.-59T>C
NR_144351.2:n.781T>C