Canonical Allele Identifier: CA383548044

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440050C>G (hg19) ; chr12:g.6330884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330884C>G , CM000674.2:g.6330884C>G	GRCh38
NC_000012.11:g.6440050C>G , CM000674.1:g.6440050C>G	GRCh37
NC_000012.10:g.6310311C>G	NCBI36
NG_007506.1:g.16212G>C , LRG_193:g.16212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1695G>C
ENST00000437813.8:c.*55G>C	ENSP00000513672.1:n.*55G>C
ENST00000440083.7:c.813G>C	ENSP00000413224.3:p.Gln271His
ENST00000535038.2:n.776G>C
ENST00000535958.2:c.*421G>C	ENSP00000513673.1:n.*421G>C
ENST00000698337.1:n.443G>C
ENST00000698338.1:n.867G>C
ENST00000698339.1:c.*89G>C	ENSP00000513670.1:n.*89G>C
ENST00000698340.1:c.552-173G>C	ENSP00000513671.1:n.552-173G>C
ENST00000162749.7:c.594G>C MANE Select	ENSP00000162749.2:p.Gln198His
ENST00000162749.6:c.594G>C	ENSP00000162749.2:p.Gln198His
ENST00000534885.5:c.*71G>C	ENSP00000441803.1:n.*71G>C
ENST00000535038.1:n.264G>C
ENST00000536717.5:n.498G>C
ENST00000537842.5:n.198G>C
ENST00000539372.5:c.594G>C	ENSP00000442059.1:p.Gln198His
ENST00000540022.5:c.465G>C	ENSP00000438343.1:p.Gln155His
ENST00000543359.5:n.38-173G>C
ENST00000543995.5:c.*181G>C	ENSP00000442405.1:n.*181G>C
NM_001065.3:c.594G>C , LRG_193t1:c.594G>C	NP_001056.1:p.Gln198His
NM_001346091.1:c.270G>C	NP_001333020.1:p.Gln90His
NM_001346092.1:c.135G>C	NP_001333021.1:p.Gln45His
NR_144351.1:n.855-173G>C
NM_001065.4:c.594G>C MANE Select	NP_001056.1:p.Gln198His
NM_001346091.2:c.270G>C	NP_001333020.1:p.Gln90His
NM_001346092.2:c.135G>C	NP_001333021.1:p.Gln45His
NR_144351.2:n.814-173G>C