Canonical Allele Identifier: CA383550575
Gene: TNFRSF1A HGNC NCBI

Linked Data

gnomAD v4: 12-6333802-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333802C>T , CM000674.2:g.6333802C>T GRCh38
NC_000012.11:g.6442968C>T , CM000674.1:g.6442968C>T GRCh37
NC_000012.10:g.6313229C>T NCBI36
NG_007506.1:g.13294G>A , LRG_193:g.13294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.291G>A
ENST00000437813.8:c.257G>A ENSP00000513672.1:p.Ser86Asn
ENST00000440083.7:c.257G>A ENSP00000413224.3:p.Ser86Asn
ENST00000535958.2:c.*84G>A ENSP00000513673.1:n.*84G>A
ENST00000698339.1:c.257G>A ENSP00000513670.1:p.Ser86Asn
ENST00000698340.1:c.257G>A ENSP00000513671.1:p.Ser86Asn
ENST00000162749.7:c.257G>A MANE Select ENSP00000162749.2:p.Ser86Asn
ENST00000162749.6:c.257G>A ENSP00000162749.2:p.Ser86Asn
ENST00000366159.8:c.257G>A ENSP00000380389.3:p.Ser86Asn
ENST00000437813.7:n.218G>A
ENST00000440083.6:c.257G>A ENSP00000413224.2:p.Ser86Asn
ENST00000534885.5:c.103G>A ENSP00000441803.1:p.Ala35Thr
ENST00000535958.1:n.503G>A
ENST00000536194.1:c.230G>A ENSP00000442919.1:p.Ser77Asn
ENST00000539372.5:c.257G>A ENSP00000442059.1:p.Ser86Asn
ENST00000540022.5:c.194-286G>A ENSP00000438343.1:n.194-286G>A
ENST00000543048.5:c.214+43G>A ENSP00000439981.1:n.214+43G>A
ENST00000543995.5:c.193+289G>A ENSP00000442405.1:n.193+289G>A
NM_001065.3:c.257G>A , LRG_193t1:c.257G>A NP_001056.1:p.Ser86Asn
NM_001346091.1:c.-68G>A NP_001333020.1:n.-68G>A
NM_001346092.1:c.-321G>A NP_001333021.1:n.-321G>A
NR_144351.1:n.560G>A
NM_001065.4:c.257G>A MANE Select NP_001056.1:p.Ser86Asn
NM_001346091.2:c.-68G>A NP_001333020.1:n.-68G>A
NM_001346092.2:c.-321G>A NP_001333021.1:n.-321G>A
NR_144351.2:n.519G>A