Canonical Allele Identifier: CA478505065
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6333834-C-A
MyVariant Identifiers: chr12:g.6443000C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333834C>A , CM000674.2:g.6333834C>A GRCh38
NC_000012.11:g.6443000C>A , CM000674.1:g.6443000C>A GRCh37
NC_000012.10:g.6313261C>A NCBI36
NG_007506.1:g.13262G>T , LRG_193:g.13262G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.259G>T
ENST00000437813.8:c.225G>T ENSP00000513672.1:p.Pro75=
ENST00000440083.7:c.225G>T ENSP00000413224.3:p.Pro75=
ENST00000535958.2:c.*52G>T ENSP00000513673.1:n.*52G>T
ENST00000698339.1:c.225G>T ENSP00000513670.1:p.Pro75=
ENST00000698340.1:c.225G>T ENSP00000513671.1:p.Pro75=
ENST00000162749.7:c.225G>T MANE Select ENSP00000162749.2:p.Pro75=
ENST00000162749.6:c.225G>T ENSP00000162749.2:p.Pro75=
ENST00000366159.8:c.225G>T ENSP00000380389.3:p.Pro75=
ENST00000437813.7:n.186G>T
ENST00000440083.6:c.225G>T ENSP00000413224.2:p.Pro75=
ENST00000534885.5:c.71G>T ENSP00000441803.1:p.Arg24Leu
ENST00000535958.1:n.471G>T
ENST00000536194.1:c.198G>T ENSP00000442919.1:p.Pro66=
ENST00000539372.5:c.225G>T ENSP00000442059.1:p.Pro75=
ENST00000540022.5:c.193+257G>T ENSP00000438343.1:n.193+257G>T
ENST00000543048.5:c.214+11G>T ENSP00000439981.1:n.214+11G>T
ENST00000543995.5:c.193+257G>T ENSP00000442405.1:n.193+257G>T
NM_001065.3:c.225G>T , LRG_193t1:c.225G>T NP_001056.1:p.Pro75=
NM_001346091.1:c.-100G>T NP_001333020.1:n.-100G>T
NM_001346092.1:c.-353G>T NP_001333021.1:n.-353G>T
NR_144351.1:n.528G>T
NM_001065.4:c.225G>T MANE Select NP_001056.1:p.Pro75=
NM_001346091.2:c.-100G>T NP_001333020.1:n.-100G>T
NM_001346092.2:c.-353G>T NP_001333021.1:n.-353G>T
NR_144351.2:n.487G>T