Canonical Allele Identifier: CA2617250944
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6330799-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6330799G>A , CM000674.2:g.6330799G>A GRCh38
NC_000012.11:g.6439965G>A , CM000674.1:g.6439965G>A GRCh37
NC_000012.10:g.6310226G>A NCBI36
NG_007506.1:g.16297C>T , LRG_193:g.16297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.1726+54C>T
ENST00000437813.8:c.*86+54C>T ENSP00000513672.1:n.*86+54C>T
ENST00000440083.7:c.844+54C>T ENSP00000413224.3:n.844+54C>T
ENST00000535038.2:n.807+54C>T
ENST00000535958.2:c.*452+54C>T ENSP00000513673.1:n.*452+54C>T
ENST00000698337.1:n.528C>T
ENST00000698338.1:n.952C>T
ENST00000698339.1:c.*120+54C>T ENSP00000513670.1:n.*120+54C>T
ENST00000698340.1:c.552-88C>T ENSP00000513671.1:n.552-88C>T
ENST00000162749.7:c.625+54C>T MANE Select ENSP00000162749.2:n.625+54C>T
ENST00000162749.6:c.625+54C>T ENSP00000162749.2:n.625+54C>T
ENST00000534885.5:c.*102+54C>T ENSP00000441803.1:n.*102+54C>T
ENST00000535038.1:n.349C>T
ENST00000536717.5:n.529+54C>T
ENST00000537842.5:n.229+54C>T
ENST00000539372.5:c.625+54C>T ENSP00000442059.1:n.625+54C>T
ENST00000540022.5:c.496+54C>T ENSP00000438343.1:n.496+54C>T
ENST00000543359.5:n.38-88C>T
ENST00000543995.5:c.*212+54C>T ENSP00000442405.1:n.*212+54C>T
NM_001065.3:c.625+54C>T , LRG_193t1:c.625+54C>T NP_001056.1:n.625+54C>T
NM_001346091.1:c.301+54C>T NP_001333020.1:n.301+54C>T
NM_001346092.1:c.166+54C>T NP_001333021.1:n.166+54C>T
NR_144351.1:n.855-88C>T
NM_001065.4:c.625+54C>T MANE Select NP_001056.1:n.625+54C>T
NM_001346091.2:c.301+54C>T NP_001333020.1:n.301+54C>T
NM_001346092.2:c.166+54C>T NP_001333021.1:n.166+54C>T
NR_144351.2:n.814-88C>T