Canonical Allele Identifier: CA383549078

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333109-C-T
• MyVariant Identifiers: chr12:g.6442275C>T (hg19) ; chr12:g.6333109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333109C>T , CM000674.2:g.6333109C>T	GRCh38
NC_000012.11:g.6442275C>T , CM000674.1:g.6442275C>T	GRCh37
NC_000012.10:g.6312536C>T	NCBI36
NG_007506.1:g.13987G>A , LRG_193:g.13987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.545G>A
ENST00000437813.8:c.511G>A	ENSP00000513672.1:p.Gly171Ser
ENST00000440083.7:c.730G>A	ENSP00000413224.3:p.Gly244Ser
ENST00000535958.2:c.*338G>A	ENSP00000513673.1:n.*338G>A
ENST00000698339.1:c.511G>A	ENSP00000513670.1:p.Gly171Ser
ENST00000698340.1:c.511G>A	ENSP00000513671.1:p.Gly171Ser
ENST00000162749.7:c.511G>A MANE Select	ENSP00000162749.2:p.Gly171Ser
ENST00000162749.6:c.511G>A	ENSP00000162749.2:p.Gly171Ser
ENST00000366159.8:c.511G>A	ENSP00000380389.3:p.Gly171Ser
ENST00000437813.7:n.472G>A
ENST00000440083.6:c.730G>A	ENSP00000413224.2:p.Gly244Ser
ENST00000534885.5:c.357G>A	ENSP00000441803.1:p.Gln119=
ENST00000537842.5:n.115G>A
ENST00000539372.5:c.511G>A	ENSP00000442059.1:p.Gly171Ser
ENST00000540022.5:c.382G>A	ENSP00000438343.1:p.Gly128Ser
ENST00000543048.5:c.*122G>A	ENSP00000439981.1:n.*122G>A
ENST00000543995.5:c.*98G>A	ENSP00000442405.1:n.*98G>A
NM_001065.3:c.511G>A , LRG_193t1:c.511G>A	NP_001056.1:p.Gly171Ser
NM_001346091.1:c.187G>A	NP_001333020.1:p.Gly63Ser
NM_001346092.1:c.-67G>A	NP_001333021.1:n.-67G>A
NR_144351.1:n.814G>A
NM_001065.4:c.511G>A MANE Select	NP_001056.1:p.Gly171Ser
NM_001346091.2:c.187G>A	NP_001333020.1:p.Gly63Ser
NM_001346092.2:c.-67G>A	NP_001333021.1:n.-67G>A
NR_144351.2:n.773G>A