Canonical Allele Identifier: CA383548134

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330908-C-G
• MyVariant Identifiers: chr12:g.6440074C>G (hg19) ; chr12:g.6330908C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330908C>G , CM000674.2:g.6330908C>G	GRCh38
NC_000012.11:g.6440074C>G , CM000674.1:g.6440074C>G	GRCh37
NC_000012.10:g.6310335C>G	NCBI36
NG_007506.1:g.16188G>C , LRG_193:g.16188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1671G>C
ENST00000437813.8:c.*31G>C	ENSP00000513672.1:n.*31G>C
ENST00000440083.7:c.789G>C	ENSP00000413224.3:p.Glu263Asp
ENST00000535038.2:n.752G>C
ENST00000535958.2:c.*397G>C	ENSP00000513673.1:n.*397G>C
ENST00000698337.1:n.419G>C
ENST00000698338.1:n.843G>C
ENST00000698339.1:c.*65G>C	ENSP00000513670.1:n.*65G>C
ENST00000698340.1:c.552-197G>C	ENSP00000513671.1:n.552-197G>C
ENST00000162749.7:c.570G>C MANE Select	ENSP00000162749.2:p.Glu190Asp
ENST00000162749.6:c.570G>C	ENSP00000162749.2:p.Glu190Asp
ENST00000534885.5:c.*47G>C	ENSP00000441803.1:n.*47G>C
ENST00000535038.1:n.240G>C
ENST00000536717.5:n.474G>C
ENST00000537842.5:n.174G>C
ENST00000539372.5:c.570G>C	ENSP00000442059.1:p.Glu190Asp
ENST00000540022.5:c.441G>C	ENSP00000438343.1:p.Glu147Asp
ENST00000543359.5:n.38-197G>C
ENST00000543995.5:c.*157G>C	ENSP00000442405.1:n.*157G>C
NM_001065.3:c.570G>C , LRG_193t1:c.570G>C	NP_001056.1:p.Glu190Asp
NM_001346091.1:c.246G>C	NP_001333020.1:p.Glu82Asp
NM_001346092.1:c.111G>C	NP_001333021.1:p.Glu37Asp
NR_144351.1:n.855-197G>C
NM_001065.4:c.570G>C MANE Select	NP_001056.1:p.Glu190Asp
NM_001346091.2:c.246G>C	NP_001333020.1:p.Glu82Asp
NM_001346092.2:c.111G>C	NP_001333021.1:p.Glu37Asp
NR_144351.2:n.814-197G>C