Canonical Allele Identifier: CA232329391

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs997425847
• gnomAD v2: 12-6442253-T-A
• gnomAD v3: 12-6333087-T-A
• gnomAD v4: 12-6333087-T-A
• MyVariant Identifiers: chr12:g.6442253T>A (hg19) ; chr12:g.6333087T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.567A>T
ENST00000437813.8:c.533A>T	ENSP00000513672.1:p.Glu178Val
ENST00000440083.7:c.752A>T	ENSP00000413224.3:p.Glu251Val
ENST00000535958.2:c.*360A>T	ENSP00000513673.1:n.*360A>T
ENST00000698339.1:c.533A>T	ENSP00000513670.1:p.Glu178Val
ENST00000698340.1:c.533A>T	ENSP00000513671.1:p.Glu178Val
ENST00000162749.7:c.533A>T MANE Select	ENSP00000162749.2:p.Glu178Val
ENST00000162749.6:c.533A>T	ENSP00000162749.2:p.Glu178Val
ENST00000366159.8:c.533A>T	ENSP00000380389.3:p.Glu178Val
ENST00000437813.7:n.494A>T
ENST00000440083.6:c.752A>T	ENSP00000413224.2:p.Glu251Val
ENST00000534885.5:c.*10A>T	ENSP00000441803.1:n.*10A>T
ENST00000537842.5:n.137A>T
ENST00000539372.5:c.533A>T	ENSP00000442059.1:p.Glu178Val
ENST00000540022.5:c.404A>T	ENSP00000438343.1:p.Glu135Val
ENST00000543048.5:c.*144A>T	ENSP00000439981.1:n.*144A>T
ENST00000543359.5:n.19A>T
ENST00000543995.5:c.*120A>T	ENSP00000442405.1:n.*120A>T
NM_001065.3:c.533A>T , LRG_193t1:c.533A>T	NP_001056.1:p.Glu178Val
NM_001346091.1:c.209A>T	NP_001333020.1:p.Glu70Val
NM_001346092.1:c.-45A>T	NP_001333021.1:n.-45A>T
NR_144351.1:n.836A>T
NM_001065.4:c.533A>T MANE Select	NP_001056.1:p.Glu178Val
NM_001346091.2:c.209A>T	NP_001333020.1:p.Glu70Val
NM_001346092.2:c.-45A>T	NP_001333021.1:n.-45A>T
NR_144351.2:n.795A>T