Canonical Allele Identifier: CA383549537

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333274-C-T
• MyVariant Identifiers: chr12:g.6442440C>T (hg19) ; chr12:g.6333274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333274C>T , CM000674.2:g.6333274C>T	GRCh38
NC_000012.11:g.6442440C>T , CM000674.1:g.6442440C>T	GRCh37
NC_000012.10:g.6312701C>T	NCBI36
NG_007506.1:g.13822G>A , LRG_193:g.13822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.506+93G>A
ENST00000437813.8:c.472+93G>A	ENSP00000513672.1:n.472+93G>A
ENST00000440083.7:c.565G>A	ENSP00000413224.3:p.Val189Ile
ENST00000535958.2:c.*299+93G>A	ENSP00000513673.1:n.*299+93G>A
ENST00000698339.1:c.472+93G>A	ENSP00000513670.1:n.472+93G>A
ENST00000698340.1:c.472+93G>A	ENSP00000513671.1:n.472+93G>A
ENST00000162749.7:c.472+93G>A MANE Select	ENSP00000162749.2:n.472+93G>A
ENST00000162749.6:c.472+93G>A	ENSP00000162749.2:n.472+93G>A
ENST00000366159.8:c.472+93G>A	ENSP00000380389.3:n.472+93G>A
ENST00000437813.7:n.433+93G>A
ENST00000440083.6:c.565G>A	ENSP00000413224.2:p.Val189Ile
ENST00000534885.5:c.318+93G>A	ENSP00000441803.1:n.318+93G>A
ENST00000537842.5:n.76+93G>A
ENST00000539372.5:c.472+93G>A	ENSP00000442059.1:n.472+93G>A
ENST00000540022.5:c.343+93G>A	ENSP00000438343.1:n.343+93G>A
ENST00000543048.5:c.*83+93G>A	ENSP00000439981.1:n.*83+93G>A
ENST00000543995.5:c.*59+93G>A	ENSP00000442405.1:n.*59+93G>A
NM_001065.3:c.472+93G>A , LRG_193t1:c.472+93G>A	NP_001056.1:n.472+93G>A
NM_001346091.1:c.148+93G>A	NP_001333020.1:n.148+93G>A
NM_001346092.1:c.-106+93G>A	NP_001333021.1:n.-106+93G>A
NR_144351.1:n.775+93G>A
NM_001065.4:c.472+93G>A MANE Select	NP_001056.1:n.472+93G>A
NM_001346091.2:c.148+93G>A	NP_001333020.1:n.148+93G>A
NM_001346092.2:c.-106+93G>A	NP_001333021.1:n.-106+93G>A
NR_144351.2:n.734+93G>A