Canonical Allele Identifier: CA383545632

Gene: TNFRSF1A

Linked Data

• gnomAD v3: 12-6329808-C-A
• gnomAD v4: 12-6329808-C-A
• MyVariant Identifiers: chr12:g.6438974C>A (hg19) ; chr12:g.6329808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329808C>A , CM000674.2:g.6329808C>A	GRCh38
NC_000012.11:g.6438974C>A , CM000674.1:g.6438974C>A	GRCh37
NC_000012.10:g.6309235C>A	NCBI36
NG_007506.1:g.17288G>T , LRG_193:g.17288G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2128G>T
ENST00000437813.8:c.*488G>T	ENSP00000513672.1:n.*488G>T
ENST00000440083.7:c.1246G>T	ENSP00000413224.3:p.Asp416Tyr
ENST00000535958.2:c.*854G>T	ENSP00000513673.1:n.*854G>T
ENST00000698337.1:n.988G>T
ENST00000698338.1:n.1641G>T
ENST00000698339.1:c.*522G>T	ENSP00000513670.1:n.*522G>T
ENST00000698340.1:c.*266G>T	ENSP00000513671.1:n.*266G>T
ENST00000162749.7:c.1027G>T MANE Select	ENSP00000162749.2:p.Asp343Tyr
ENST00000162749.6:c.1027G>T	ENSP00000162749.2:p.Asp343Tyr
ENST00000534885.5:c.*504G>T	ENSP00000441803.1:n.*504G>T
ENST00000536717.5:n.931G>T
ENST00000540022.5:c.898G>T	ENSP00000438343.1:p.Asp300Tyr
ENST00000543359.5:n.439G>T
ENST00000543995.5:c.*614G>T	ENSP00000442405.1:n.*614G>T
NM_001065.3:c.1027G>T , LRG_193t1:c.1027G>T	NP_001056.1:p.Asp343Tyr
NM_001346091.1:c.703G>T	NP_001333020.1:p.Asp235Tyr
NM_001346092.1:c.568G>T	NP_001333021.1:p.Asp190Tyr
NR_144351.1:n.1256G>T
NM_001065.4:c.1027G>T MANE Select	NP_001056.1:p.Asp343Tyr
NM_001346091.2:c.703G>T	NP_001333020.1:p.Asp235Tyr
NM_001346092.2:c.568G>T	NP_001333021.1:p.Asp190Tyr
NR_144351.2:n.1215G>T