Canonical Allele Identifier: CA383546990

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330607-A-G
• MyVariant Identifiers: chr12:g.6439773A>G (hg19) ; chr12:g.6330607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330607A>G , CM000674.2:g.6330607A>G	GRCh38
NC_000012.11:g.6439773A>G , CM000674.1:g.6439773A>G	GRCh37
NC_000012.10:g.6310034A>G	NCBI36
NG_007506.1:g.16489T>C , LRG_193:g.16489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1831T>C
ENST00000437813.8:c.*191T>C	ENSP00000513672.1:n.*191T>C
ENST00000440083.7:c.949T>C	ENSP00000413224.3:p.Tyr317His
ENST00000535038.2:n.912T>C
ENST00000535958.2:c.*557T>C	ENSP00000513673.1:n.*557T>C
ENST00000698337.1:n.720T>C
ENST00000698338.1:n.1144T>C
ENST00000698339.1:c.*225T>C	ENSP00000513670.1:n.*225T>C
ENST00000698340.1:c.656T>C	ENSP00000513671.1:p.Leu219Pro
ENST00000162749.7:c.730T>C MANE Select	ENSP00000162749.2:p.Tyr244His
ENST00000162749.6:c.730T>C	ENSP00000162749.2:p.Tyr244His
ENST00000534885.5:c.*207T>C	ENSP00000441803.1:n.*207T>C
ENST00000535038.1:n.541T>C
ENST00000536717.5:n.634T>C
ENST00000537842.5:n.334T>C
ENST00000539372.5:c.730T>C	ENSP00000442059.1:p.Tyr244His
ENST00000540022.5:c.601T>C	ENSP00000438343.1:p.Tyr201His
ENST00000543359.5:n.142T>C
ENST00000543995.5:c.*317T>C	ENSP00000442405.1:n.*317T>C
NM_001065.3:c.730T>C , LRG_193t1:c.730T>C	NP_001056.1:p.Tyr244His
NM_001346091.1:c.406T>C	NP_001333020.1:p.Tyr136His
NM_001346092.1:c.271T>C	NP_001333021.1:p.Tyr91His
NR_144351.1:n.959T>C
NM_001065.4:c.730T>C MANE Select	NP_001056.1:p.Tyr244His
NM_001346091.2:c.406T>C	NP_001333020.1:p.Tyr136His
NM_001346092.2:c.271T>C	NP_001333021.1:p.Tyr91His
NR_144351.2:n.918T>C