Canonical Allele Identifier: CA383548983

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948070558
• gnomAD v4: 12-6333069-T-C
• MyVariant Identifiers: chr12:g.6442235T>C (hg19) ; chr12:g.6333069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333069T>C , CM000674.2:g.6333069T>C	GRCh38
NC_000012.11:g.6442235T>C , CM000674.1:g.6442235T>C	GRCh37
NC_000012.10:g.6312496T>C	NCBI36
NG_007506.1:g.14027A>G , LRG_193:g.14027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.585A>G
ENST00000437813.8:c.551A>G	ENSP00000513672.1:p.Lys184Arg
ENST00000440083.7:c.770A>G	ENSP00000413224.3:p.Asn257Ser
ENST00000535958.2:c.*378A>G	ENSP00000513673.1:n.*378A>G
ENST00000698339.1:c.551A>G	ENSP00000513670.1:p.Lys184Arg
ENST00000698340.1:c.551A>G	ENSP00000513671.1:p.Lys184Arg
ENST00000162749.7:c.551A>G MANE Select	ENSP00000162749.2:p.Asn184Ser
ENST00000162749.6:c.551A>G	ENSP00000162749.2:p.Asn184Ser
ENST00000366159.8:c.551A>G	ENSP00000380389.3:p.Lys184Arg
ENST00000437813.7:n.512A>G
ENST00000534885.5:c.*28A>G	ENSP00000441803.1:n.*28A>G
ENST00000537842.5:n.155A>G
ENST00000539372.5:c.551A>G	ENSP00000442059.1:p.Asn184Ser
ENST00000540022.5:c.422A>G	ENSP00000438343.1:p.Asn141Ser
ENST00000543048.5:c.*162A>G	ENSP00000439981.1:n.*162A>G
ENST00000543359.5:n.37A>G
ENST00000543995.5:c.*138A>G	ENSP00000442405.1:n.*138A>G
NM_001065.3:c.551A>G , LRG_193t1:c.551A>G	NP_001056.1:p.Asn184Ser
NM_001346091.1:c.227A>G	NP_001333020.1:p.Asn76Ser
NM_001346092.1:c.-27A>G	NP_001333021.1:n.-27A>G
NR_144351.1:n.854A>G
NM_001065.4:c.551A>G MANE Select	NP_001056.1:p.Asn184Ser
NM_001346091.2:c.227A>G	NP_001333020.1:p.Asn76Ser
NM_001346092.2:c.-27A>G	NP_001333021.1:n.-27A>G
NR_144351.2:n.813A>G