Canonical Allele Identifier: CA478504965
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6333485-T-G
MyVariant Identifiers: chr12:g.6442651T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333485T>G , CM000674.2:g.6333485T>G GRCh38
NC_000012.11:g.6442651T>G , CM000674.1:g.6442651T>G GRCh37
NC_000012.10:g.6312912T>G NCBI36
NG_007506.1:g.13611A>C , LRG_193:g.13611A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.388A>C
ENST00000437813.8:c.354A>C ENSP00000513672.1:p.Thr118=
ENST00000440083.7:c.354A>C ENSP00000413224.3:p.Thr118=
ENST00000535958.2:c.*181A>C ENSP00000513673.1:n.*181A>C
ENST00000698339.1:c.354A>C ENSP00000513670.1:p.Thr118=
ENST00000698340.1:c.354A>C ENSP00000513671.1:p.Thr118=
ENST00000162749.7:c.354A>C MANE Select ENSP00000162749.2:p.Thr118=
ENST00000162749.6:c.354A>C ENSP00000162749.2:p.Thr118=
ENST00000366159.8:c.354A>C ENSP00000380389.3:p.Thr118=
ENST00000437813.7:n.315A>C
ENST00000440083.6:c.354A>C ENSP00000413224.2:p.Thr118=
ENST00000534885.5:c.200A>C ENSP00000441803.1:p.Gln67Pro
ENST00000536194.1:c.327A>C ENSP00000442919.1:p.Thr109=
ENST00000539372.5:c.354A>C ENSP00000442059.1:p.Thr118=
ENST00000540022.5:c.225A>C ENSP00000438343.1:p.Thr75=
ENST00000543048.5:c.215-34A>C ENSP00000439981.1:n.215-34A>C
ENST00000543995.5:c.194-34A>C ENSP00000442405.1:n.194-34A>C
NM_001065.3:c.354A>C , LRG_193t1:c.354A>C NP_001056.1:p.Thr118=
NM_001346091.1:c.30A>C NP_001333020.1:p.Thr10=
NM_001346092.1:c.-224A>C NP_001333021.1:n.-224A>C
NR_144351.1:n.657A>C
NM_001065.4:c.354A>C MANE Select NP_001056.1:p.Thr118=
NM_001346091.2:c.30A>C NP_001333020.1:p.Thr10=
NM_001346092.2:c.-224A>C NP_001333021.1:n.-224A>C
NR_144351.2:n.616A>C