Canonical Allele Identifier: CA383547992

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330865-T-G
• MyVariant Identifiers: chr12:g.6440031T>G (hg19) ; chr12:g.6330865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330865T>G , CM000674.2:g.6330865T>G	GRCh38
NC_000012.11:g.6440031T>G , CM000674.1:g.6440031T>G	GRCh37
NC_000012.10:g.6310292T>G	NCBI36
NG_007506.1:g.16231A>C , LRG_193:g.16231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1714A>C
ENST00000437813.8:c.*74A>C	ENSP00000513672.1:n.*74A>C
ENST00000440083.7:c.832A>C	ENSP00000413224.3:p.Thr278Pro
ENST00000535038.2:n.795A>C
ENST00000535958.2:c.*440A>C	ENSP00000513673.1:n.*440A>C
ENST00000698337.1:n.462A>C
ENST00000698338.1:n.886A>C
ENST00000698339.1:c.*108A>C	ENSP00000513670.1:n.*108A>C
ENST00000698340.1:c.552-154A>C	ENSP00000513671.1:n.552-154A>C
ENST00000162749.7:c.613A>C MANE Select	ENSP00000162749.2:p.Thr205Pro
ENST00000162749.6:c.613A>C	ENSP00000162749.2:p.Thr205Pro
ENST00000534885.5:c.*90A>C	ENSP00000441803.1:n.*90A>C
ENST00000535038.1:n.283A>C
ENST00000536717.5:n.517A>C
ENST00000537842.5:n.217A>C
ENST00000539372.5:c.613A>C	ENSP00000442059.1:p.Thr205Pro
ENST00000540022.5:c.484A>C	ENSP00000438343.1:p.Thr162Pro
ENST00000543359.5:n.38-154A>C
ENST00000543995.5:c.*200A>C	ENSP00000442405.1:n.*200A>C
NM_001065.3:c.613A>C , LRG_193t1:c.613A>C	NP_001056.1:p.Thr205Pro
NM_001346091.1:c.289A>C	NP_001333020.1:p.Thr97Pro
NM_001346092.1:c.154A>C	NP_001333021.1:p.Thr52Pro
NR_144351.1:n.855-154A>C
NM_001065.4:c.613A>C MANE Select	NP_001056.1:p.Thr205Pro
NM_001346091.2:c.289A>C	NP_001333020.1:p.Thr97Pro
NM_001346092.2:c.154A>C	NP_001333021.1:p.Thr52Pro
NR_144351.2:n.814-154A>C