Canonical Allele Identifier: CA383550300

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333504-A-C
• MyVariant Identifiers: chr12:g.6442670A>C (hg19) ; chr12:g.6333504A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333504A>C , CM000674.2:g.6333504A>C	GRCh38
NC_000012.11:g.6442670A>C , CM000674.1:g.6442670A>C	GRCh37
NC_000012.10:g.6312931A>C	NCBI36
NG_007506.1:g.13592T>G , LRG_193:g.13592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.369T>G
ENST00000437813.8:c.335T>G	ENSP00000513672.1:p.Val112Gly
ENST00000440083.7:c.335T>G	ENSP00000413224.3:p.Val112Gly
ENST00000535958.2:c.*162T>G	ENSP00000513673.1:n.*162T>G
ENST00000698339.1:c.335T>G	ENSP00000513670.1:p.Val112Gly
ENST00000698340.1:c.335T>G	ENSP00000513671.1:p.Val112Gly
ENST00000162749.7:c.335T>G MANE Select	ENSP00000162749.2:p.Val112Gly
ENST00000162749.6:c.335T>G	ENSP00000162749.2:p.Val112Gly
ENST00000366159.8:c.335T>G	ENSP00000380389.3:p.Val112Gly
ENST00000437813.7:n.296T>G
ENST00000440083.6:c.335T>G	ENSP00000413224.2:p.Val112Gly
ENST00000534885.5:c.181T>G	ENSP00000441803.1:p.Trp61Gly
ENST00000536194.1:c.308T>G	ENSP00000442919.1:p.Val103Gly
ENST00000539372.5:c.335T>G	ENSP00000442059.1:p.Val112Gly
ENST00000540022.5:c.206T>G	ENSP00000438343.1:p.Val69Gly
ENST00000543048.5:c.215-53T>G	ENSP00000439981.1:n.215-53T>G
ENST00000543995.5:c.194-53T>G	ENSP00000442405.1:n.194-53T>G
NM_001065.3:c.335T>G , LRG_193t1:c.335T>G	NP_001056.1:p.Val112Gly
NM_001346091.1:c.11T>G	NP_001333020.1:p.Val4Gly
NM_001346092.1:c.-243T>G	NP_001333021.1:n.-243T>G
NR_144351.1:n.638T>G
NM_001065.4:c.335T>G MANE Select	NP_001056.1:p.Val112Gly
NM_001346091.2:c.11T>G	NP_001333020.1:p.Val4Gly
NM_001346092.2:c.-243T>G	NP_001333021.1:n.-243T>G
NR_144351.2:n.597T>G