Canonical Allele Identifier: CA478504973
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1948079412
MyVariant Identifiers: chr12:g.6442657A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333491A>G , CM000674.2:g.6333491A>G GRCh38
NC_000012.11:g.6442657A>G , CM000674.1:g.6442657A>G GRCh37
NC_000012.10:g.6312918A>G NCBI36
NG_007506.1:g.13605T>C , LRG_193:g.13605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.382T>C
ENST00000437813.8:c.348T>C ENSP00000513672.1:p.Ser116=
ENST00000440083.7:c.348T>C ENSP00000413224.3:p.Ser116=
ENST00000535958.2:c.*175T>C ENSP00000513673.1:n.*175T>C
ENST00000698339.1:c.348T>C ENSP00000513670.1:p.Ser116=
ENST00000698340.1:c.348T>C ENSP00000513671.1:p.Ser116=
ENST00000162749.7:c.348T>C MANE Select ENSP00000162749.2:p.Ser116=
ENST00000162749.6:c.348T>C ENSP00000162749.2:p.Ser116=
ENST00000366159.8:c.348T>C ENSP00000380389.3:p.Ser116=
ENST00000437813.7:n.309T>C
ENST00000440083.6:c.348T>C ENSP00000413224.2:p.Ser116=
ENST00000534885.5:c.194T>C ENSP00000441803.1:p.Leu65Pro
ENST00000536194.1:c.321T>C ENSP00000442919.1:p.Ser107=
ENST00000539372.5:c.348T>C ENSP00000442059.1:p.Ser116=
ENST00000540022.5:c.219T>C ENSP00000438343.1:p.Ser73=
ENST00000543048.5:c.215-40T>C ENSP00000439981.1:n.215-40T>C
ENST00000543995.5:c.194-40T>C ENSP00000442405.1:n.194-40T>C
NM_001065.3:c.348T>C , LRG_193t1:c.348T>C NP_001056.1:p.Ser116=
NM_001346091.1:c.24T>C NP_001333020.1:p.Ser8=
NM_001346092.1:c.-230T>C NP_001333021.1:n.-230T>C
NR_144351.1:n.651T>C
NM_001065.4:c.348T>C MANE Select NP_001056.1:p.Ser116=
NM_001346091.2:c.24T>C NP_001333020.1:p.Ser8=
NM_001346092.2:c.-230T>C NP_001333021.1:n.-230T>C
NR_144351.2:n.610T>C