Canonical Allele Identifier: CA383549006

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333078-G-T
• MyVariant Identifiers: chr12:g.6442244G>T (hg19) ; chr12:g.6333078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333078G>T , CM000674.2:g.6333078G>T	GRCh38
NC_000012.11:g.6442244G>T , CM000674.1:g.6442244G>T	GRCh37
NC_000012.10:g.6312505G>T	NCBI36
NG_007506.1:g.14018C>A , LRG_193:g.14018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.576C>A
ENST00000437813.8:c.542C>A	ENSP00000513672.1:p.Ser181Tyr
ENST00000440083.7:c.761C>A	ENSP00000413224.3:p.Ser254Tyr
ENST00000535958.2:c.*369C>A	ENSP00000513673.1:n.*369C>A
ENST00000698339.1:c.542C>A	ENSP00000513670.1:p.Ser181Tyr
ENST00000698340.1:c.542C>A	ENSP00000513671.1:p.Ser181Tyr
ENST00000162749.7:c.542C>A MANE Select	ENSP00000162749.2:p.Ser181Tyr
ENST00000162749.6:c.542C>A	ENSP00000162749.2:p.Ser181Tyr
ENST00000366159.8:c.542C>A	ENSP00000380389.3:p.Ser181Tyr
ENST00000437813.7:n.503C>A
ENST00000440083.6:c.761C>A	ENSP00000413224.2:p.Ser254Tyr
ENST00000534885.5:c.*19C>A	ENSP00000441803.1:n.*19C>A
ENST00000537842.5:n.146C>A
ENST00000539372.5:c.542C>A	ENSP00000442059.1:p.Ser181Tyr
ENST00000540022.5:c.413C>A	ENSP00000438343.1:p.Ser138Tyr
ENST00000543048.5:c.*153C>A	ENSP00000439981.1:n.*153C>A
ENST00000543359.5:n.28C>A
ENST00000543995.5:c.*129C>A	ENSP00000442405.1:n.*129C>A
NM_001065.3:c.542C>A , LRG_193t1:c.542C>A	NP_001056.1:p.Ser181Tyr
NM_001346091.1:c.218C>A	NP_001333020.1:p.Ser73Tyr
NM_001346092.1:c.-36C>A	NP_001333021.1:n.-36C>A
NR_144351.1:n.845C>A
NM_001065.4:c.542C>A MANE Select	NP_001056.1:p.Ser181Tyr
NM_001346091.2:c.218C>A	NP_001333020.1:p.Ser73Tyr
NM_001346092.2:c.-36C>A	NP_001333021.1:n.-36C>A
NR_144351.2:n.804C>A