Canonical Allele Identifier: CA383548991

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1312519925
• gnomAD v2: 12-6442238-C-G
• gnomAD v3: 12-6333072-C-G
• gnomAD v4: 12-6333072-C-G
• MyVariant Identifiers: chr12:g.6442238C>G (hg19) ; chr12:g.6333072C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333072C>G , CM000674.2:g.6333072C>G	GRCh38
NC_000012.11:g.6442238C>G , CM000674.1:g.6442238C>G	GRCh37
NC_000012.10:g.6312499C>G	NCBI36
NG_007506.1:g.14024G>C , LRG_193:g.14024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.582G>C
ENST00000437813.8:c.548G>C	ENSP00000513672.1:p.Ser183Thr
ENST00000440083.7:c.767G>C	ENSP00000413224.3:p.Ser256Thr
ENST00000535958.2:c.*375G>C	ENSP00000513673.1:n.*375G>C
ENST00000698339.1:c.548G>C	ENSP00000513670.1:p.Ser183Thr
ENST00000698340.1:c.548G>C	ENSP00000513671.1:p.Ser183Thr
ENST00000162749.7:c.548G>C MANE Select	ENSP00000162749.2:p.Ser183Thr
ENST00000162749.6:c.548G>C	ENSP00000162749.2:p.Ser183Thr
ENST00000366159.8:c.548G>C	ENSP00000380389.3:p.Ser183Thr
ENST00000437813.7:n.509G>C
ENST00000534885.5:c.*25G>C	ENSP00000441803.1:n.*25G>C
ENST00000537842.5:n.152G>C
ENST00000539372.5:c.548G>C	ENSP00000442059.1:p.Ser183Thr
ENST00000540022.5:c.419G>C	ENSP00000438343.1:p.Ser140Thr
ENST00000543048.5:c.*159G>C	ENSP00000439981.1:n.*159G>C
ENST00000543359.5:n.34G>C
ENST00000543995.5:c.*135G>C	ENSP00000442405.1:n.*135G>C
NM_001065.3:c.548G>C , LRG_193t1:c.548G>C	NP_001056.1:p.Ser183Thr
NM_001346091.1:c.224G>C	NP_001333020.1:p.Ser75Thr
NM_001346092.1:c.-30G>C	NP_001333021.1:n.-30G>C
NR_144351.1:n.851G>C
NM_001065.4:c.548G>C MANE Select	NP_001056.1:p.Ser183Thr
NM_001346091.2:c.224G>C	NP_001333020.1:p.Ser75Thr
NM_001346092.2:c.-30G>C	NP_001333021.1:n.-30G>C
NR_144351.2:n.810G>C