Canonical Allele Identifier: CA383547759

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330678-A-G
• MyVariant Identifiers: chr12:g.6439844A>G (hg19) ; chr12:g.6330678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330678A>G , CM000674.2:g.6330678A>G	GRCh38
NC_000012.11:g.6439844A>G , CM000674.1:g.6439844A>G	GRCh37
NC_000012.10:g.6310105A>G	NCBI36
NG_007506.1:g.16418T>C , LRG_193:g.16418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1760T>C
ENST00000437813.8:c.*120T>C	ENSP00000513672.1:n.*120T>C
ENST00000440083.7:c.878T>C	ENSP00000413224.3:p.Phe293Ser
ENST00000535038.2:n.841T>C
ENST00000535958.2:c.*486T>C	ENSP00000513673.1:n.*486T>C
ENST00000698337.1:n.649T>C
ENST00000698338.1:n.1073T>C
ENST00000698339.1:c.*154T>C	ENSP00000513670.1:n.*154T>C
ENST00000698340.1:c.585T>C	ENSP00000513671.1:p.Leu195=
ENST00000162749.7:c.659T>C MANE Select	ENSP00000162749.2:p.Phe220Ser
ENST00000162749.6:c.659T>C	ENSP00000162749.2:p.Phe220Ser
ENST00000534885.5:c.*136T>C	ENSP00000441803.1:n.*136T>C
ENST00000535038.1:n.470T>C
ENST00000536717.5:n.563T>C
ENST00000537842.5:n.263T>C
ENST00000539372.5:c.659T>C	ENSP00000442059.1:p.Phe220Ser
ENST00000540022.5:c.530T>C	ENSP00000438343.1:p.Phe177Ser
ENST00000543359.5:n.71T>C
ENST00000543995.5:c.*246T>C	ENSP00000442405.1:n.*246T>C
NM_001065.3:c.659T>C , LRG_193t1:c.659T>C	NP_001056.1:p.Phe220Ser
NM_001346091.1:c.335T>C	NP_001333020.1:p.Phe112Ser
NM_001346092.1:c.200T>C	NP_001333021.1:p.Phe67Ser
NR_144351.1:n.888T>C
NM_001065.4:c.659T>C MANE Select	NP_001056.1:p.Phe220Ser
NM_001346091.2:c.335T>C	NP_001333020.1:p.Phe112Ser
NM_001346092.2:c.200T>C	NP_001333021.1:p.Phe67Ser
NR_144351.2:n.847T>C