Canonical Allele Identifier: CA383548060

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948042104
• gnomAD v3: 12-6330889-G-A
• gnomAD v4: 12-6330889-G-A
• MyVariant Identifiers: chr12:g.6440055G>A (hg19) ; chr12:g.6330889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330889G>A , CM000674.2:g.6330889G>A	GRCh38
NC_000012.11:g.6440055G>A , CM000674.1:g.6440055G>A	GRCh37
NC_000012.10:g.6310316G>A	NCBI36
NG_007506.1:g.16207C>T , LRG_193:g.16207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1690C>T
ENST00000437813.8:c.*50C>T	ENSP00000513672.1:n.*50C>T
ENST00000440083.7:c.808C>T	ENSP00000413224.3:p.Pro270Ser
ENST00000535038.2:n.771C>T
ENST00000535958.2:c.*416C>T	ENSP00000513673.1:n.*416C>T
ENST00000698337.1:n.438C>T
ENST00000698338.1:n.862C>T
ENST00000698339.1:c.*84C>T	ENSP00000513670.1:n.*84C>T
ENST00000698340.1:c.552-178C>T	ENSP00000513671.1:n.552-178C>T
ENST00000162749.7:c.589C>T MANE Select	ENSP00000162749.2:p.Pro197Ser
ENST00000162749.6:c.589C>T	ENSP00000162749.2:p.Pro197Ser
ENST00000534885.5:c.*66C>T	ENSP00000441803.1:n.*66C>T
ENST00000535038.1:n.259C>T
ENST00000536717.5:n.493C>T
ENST00000537842.5:n.193C>T
ENST00000539372.5:c.589C>T	ENSP00000442059.1:p.Pro197Ser
ENST00000540022.5:c.460C>T	ENSP00000438343.1:p.Pro154Ser
ENST00000543359.5:n.38-178C>T
ENST00000543995.5:c.*176C>T	ENSP00000442405.1:n.*176C>T
NM_001065.3:c.589C>T , LRG_193t1:c.589C>T	NP_001056.1:p.Pro197Ser
NM_001346091.1:c.265C>T	NP_001333020.1:p.Pro89Ser
NM_001346092.1:c.130C>T	NP_001333021.1:p.Pro44Ser
NR_144351.1:n.855-178C>T
NM_001065.4:c.589C>T MANE Select	NP_001056.1:p.Pro197Ser
NM_001346091.2:c.265C>T	NP_001333020.1:p.Pro89Ser
NM_001346092.2:c.130C>T	NP_001333021.1:p.Pro44Ser
NR_144351.2:n.814-178C>T