Canonical Allele Identifier: CA383549100

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333120-G-T
• MyVariant Identifiers: chr12:g.6442286G>T (hg19) ; chr12:g.6333120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333120G>T , CM000674.2:g.6333120G>T	GRCh38
NC_000012.11:g.6442286G>T , CM000674.1:g.6442286G>T	GRCh37
NC_000012.10:g.6312547G>T	NCBI36
NG_007506.1:g.13976C>A , LRG_193:g.13976C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.534C>A
ENST00000437813.8:c.500C>A	ENSP00000513672.1:p.Thr167Asn
ENST00000440083.7:c.719C>A	ENSP00000413224.3:p.Thr240Asn
ENST00000535958.2:c.*327C>A	ENSP00000513673.1:n.*327C>A
ENST00000698339.1:c.500C>A	ENSP00000513670.1:p.Thr167Asn
ENST00000698340.1:c.500C>A	ENSP00000513671.1:p.Thr167Asn
ENST00000162749.7:c.500C>A MANE Select	ENSP00000162749.2:p.Thr167Asn
ENST00000162749.6:c.500C>A	ENSP00000162749.2:p.Thr167Asn
ENST00000366159.8:c.500C>A	ENSP00000380389.3:p.Thr167Asn
ENST00000437813.7:n.461C>A
ENST00000440083.6:c.719C>A	ENSP00000413224.2:p.Thr240Asn
ENST00000534885.5:c.346C>A	ENSP00000441803.1:p.Pro116Thr
ENST00000537842.5:n.104C>A
ENST00000539372.5:c.500C>A	ENSP00000442059.1:p.Thr167Asn
ENST00000540022.5:c.371C>A	ENSP00000438343.1:p.Thr124Asn
ENST00000543048.5:c.*111C>A	ENSP00000439981.1:n.*111C>A
ENST00000543995.5:c.*87C>A	ENSP00000442405.1:n.*87C>A
NM_001065.3:c.500C>A , LRG_193t1:c.500C>A	NP_001056.1:p.Thr167Asn
NM_001346091.1:c.176C>A	NP_001333020.1:p.Thr59Asn
NM_001346092.1:c.-78C>A	NP_001333021.1:n.-78C>A
NR_144351.1:n.803C>A
NM_001065.4:c.500C>A MANE Select	NP_001056.1:p.Thr167Asn
NM_001346091.2:c.176C>A	NP_001333020.1:p.Thr59Asn
NM_001346092.2:c.-78C>A	NP_001333021.1:n.-78C>A
NR_144351.2:n.762C>A