Canonical Allele Identifier: CA478504951

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1347122132
• gnomAD v2: 12-6442645-G-A
• MyVariant Identifiers: chr12:g.6442645G>A (hg19) ; chr12:g.6333479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333479G>A , CM000674.2:g.6333479G>A	GRCh38
NC_000012.11:g.6442645G>A , CM000674.1:g.6442645G>A	GRCh37
NC_000012.10:g.6312906G>A	NCBI36
NG_007506.1:g.13617C>T , LRG_193:g.13617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.394C>T
ENST00000437813.8:c.360C>T	ENSP00000513672.1:p.Asp120=
ENST00000440083.7:c.360C>T	ENSP00000413224.3:p.Asp120=
ENST00000535958.2:c.*187C>T	ENSP00000513673.1:n.*187C>T
ENST00000698339.1:c.360C>T	ENSP00000513670.1:p.Asp120=
ENST00000698340.1:c.360C>T	ENSP00000513671.1:p.Asp120=
ENST00000162749.7:c.360C>T MANE Select	ENSP00000162749.2:p.Asp120=
ENST00000162749.6:c.360C>T	ENSP00000162749.2:p.Asp120=
ENST00000366159.8:c.360C>T	ENSP00000380389.3:p.Asp120=
ENST00000437813.7:n.321C>T
ENST00000440083.6:c.360C>T	ENSP00000413224.2:p.Asp120=
ENST00000534885.5:c.206C>T	ENSP00000441803.1:p.Thr69Ile
ENST00000536194.1:c.333C>T	ENSP00000442919.1:p.Asp111=
ENST00000539372.5:c.360C>T	ENSP00000442059.1:p.Asp120=
ENST00000540022.5:c.231C>T	ENSP00000438343.1:p.Asp77=
ENST00000543048.5:c.215-28C>T	ENSP00000439981.1:n.215-28C>T
ENST00000543995.5:c.194-28C>T	ENSP00000442405.1:n.194-28C>T
NM_001065.3:c.360C>T , LRG_193t1:c.360C>T	NP_001056.1:p.Asp120=
NM_001346091.1:c.36C>T	NP_001333020.1:p.Asp12=
NM_001346092.1:c.-218C>T	NP_001333021.1:n.-218C>T
NR_144351.1:n.663C>T
NM_001065.4:c.360C>T MANE Select	NP_001056.1:p.Asp120=
NM_001346091.2:c.36C>T	NP_001333020.1:p.Asp12=
NM_001346092.2:c.-218C>T	NP_001333021.1:n.-218C>T
NR_144351.2:n.622C>T