Canonical Allele Identifier: CA383545616

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6329802-C-A
• MyVariant Identifiers: chr12:g.6438968C>A (hg19) ; chr12:g.6329802C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329802C>A , CM000674.2:g.6329802C>A	GRCh38
NC_000012.11:g.6438968C>A , CM000674.1:g.6438968C>A	GRCh37
NC_000012.10:g.6309229C>A	NCBI36
NG_007506.1:g.17294G>T , LRG_193:g.17294G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2134G>T
ENST00000437813.8:c.*494G>T	ENSP00000513672.1:n.*494G>T
ENST00000440083.7:c.1252G>T	ENSP00000413224.3:p.Ala418Ser
ENST00000535958.2:c.*860G>T	ENSP00000513673.1:n.*860G>T
ENST00000698337.1:n.994G>T
ENST00000698338.1:n.1647G>T
ENST00000698339.1:c.*528G>T	ENSP00000513670.1:n.*528G>T
ENST00000698340.1:c.*272G>T	ENSP00000513671.1:n.*272G>T
ENST00000162749.7:c.1033G>T MANE Select	ENSP00000162749.2:p.Ala345Ser
ENST00000162749.6:c.1033G>T	ENSP00000162749.2:p.Ala345Ser
ENST00000534885.5:c.*510G>T	ENSP00000441803.1:n.*510G>T
ENST00000536717.5:n.937G>T
ENST00000540022.5:c.904G>T	ENSP00000438343.1:p.Ala302Ser
ENST00000543359.5:n.445G>T
ENST00000543995.5:c.*620G>T	ENSP00000442405.1:n.*620G>T
NM_001065.3:c.1033G>T , LRG_193t1:c.1033G>T	NP_001056.1:p.Ala345Ser
NM_001346091.1:c.709G>T	NP_001333020.1:p.Ala237Ser
NM_001346092.1:c.574G>T	NP_001333021.1:p.Ala192Ser
NR_144351.1:n.1262G>T
NM_001065.4:c.1033G>T MANE Select	NP_001056.1:p.Ala345Ser
NM_001346091.2:c.709G>T	NP_001333020.1:p.Ala237Ser
NM_001346092.2:c.574G>T	NP_001333021.1:p.Ala192Ser
NR_144351.2:n.1221G>T