Canonical Allele Identifier: CA383549027

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs997425847
• gnomAD v3: 12-6333087-T-C
• gnomAD v4: 12-6333087-T-C
• MyVariant Identifiers: chr12:g.6442253T>C (hg19) ; chr12:g.6333087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333087T>C , CM000674.2:g.6333087T>C	GRCh38
NC_000012.11:g.6442253T>C , CM000674.1:g.6442253T>C	GRCh37
NC_000012.10:g.6312514T>C	NCBI36
NG_007506.1:g.14009A>G , LRG_193:g.14009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.567A>G
ENST00000437813.8:c.533A>G	ENSP00000513672.1:p.Glu178Gly
ENST00000440083.7:c.752A>G	ENSP00000413224.3:p.Glu251Gly
ENST00000535958.2:c.*360A>G	ENSP00000513673.1:n.*360A>G
ENST00000698339.1:c.533A>G	ENSP00000513670.1:p.Glu178Gly
ENST00000698340.1:c.533A>G	ENSP00000513671.1:p.Glu178Gly
ENST00000162749.7:c.533A>G MANE Select	ENSP00000162749.2:p.Glu178Gly
ENST00000162749.6:c.533A>G	ENSP00000162749.2:p.Glu178Gly
ENST00000366159.8:c.533A>G	ENSP00000380389.3:p.Glu178Gly
ENST00000437813.7:n.494A>G
ENST00000440083.6:c.752A>G	ENSP00000413224.2:p.Glu251Gly
ENST00000534885.5:c.*10A>G	ENSP00000441803.1:n.*10A>G
ENST00000537842.5:n.137A>G
ENST00000539372.5:c.533A>G	ENSP00000442059.1:p.Glu178Gly
ENST00000540022.5:c.404A>G	ENSP00000438343.1:p.Glu135Gly
ENST00000543048.5:c.*144A>G	ENSP00000439981.1:n.*144A>G
ENST00000543359.5:n.19A>G
ENST00000543995.5:c.*120A>G	ENSP00000442405.1:n.*120A>G
NM_001065.3:c.533A>G , LRG_193t1:c.533A>G	NP_001056.1:p.Glu178Gly
NM_001346091.1:c.209A>G	NP_001333020.1:p.Glu70Gly
NM_001346092.1:c.-45A>G	NP_001333021.1:n.-45A>G
NR_144351.1:n.836A>G
NM_001065.4:c.533A>G MANE Select	NP_001056.1:p.Glu178Gly
NM_001346091.2:c.209A>G	NP_001333020.1:p.Glu70Gly
NM_001346092.2:c.-45A>G	NP_001333021.1:n.-45A>G
NR_144351.2:n.795A>G