Canonical Allele Identifier: CA383549990

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442579C>G (hg19) ; chr12:g.6333413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333413C>G , CM000674.2:g.6333413C>G	GRCh38
NC_000012.11:g.6442579C>G , CM000674.1:g.6442579C>G	GRCh37
NC_000012.10:g.6312840C>G	NCBI36
NG_007506.1:g.13683G>C , LRG_193:g.13683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.460G>C
ENST00000437813.8:c.426G>C	ENSP00000513672.1:p.Gln142His
ENST00000440083.7:c.426G>C	ENSP00000413224.3:p.Gln142His
ENST00000535958.2:c.*253G>C	ENSP00000513673.1:n.*253G>C
ENST00000698339.1:c.426G>C	ENSP00000513670.1:p.Gln142His
ENST00000698340.1:c.426G>C	ENSP00000513671.1:p.Gln142His
ENST00000162749.7:c.426G>C MANE Select	ENSP00000162749.2:p.Gln142His
ENST00000162749.6:c.426G>C	ENSP00000162749.2:p.Gln142His
ENST00000366159.8:c.426G>C	ENSP00000380389.3:p.Gln142His
ENST00000437813.7:n.387G>C
ENST00000440083.6:c.426G>C	ENSP00000413224.2:p.Gln142His
ENST00000534885.5:c.272G>C	ENSP00000441803.1:p.Ser91Thr
ENST00000537842.5:n.30G>C
ENST00000539372.5:c.426G>C	ENSP00000442059.1:p.Gln142His
ENST00000540022.5:c.297G>C	ENSP00000438343.1:p.Gln99His
ENST00000543048.5:c.*37G>C	ENSP00000439981.1:n.*37G>C
ENST00000543995.5:c.*13G>C	ENSP00000442405.1:n.*13G>C
NM_001065.3:c.426G>C , LRG_193t1:c.426G>C	NP_001056.1:p.Gln142His
NM_001346091.1:c.102G>C	NP_001333020.1:p.Gln34His
NM_001346092.1:c.-152G>C	NP_001333021.1:n.-152G>C
NR_144351.1:n.729G>C
NM_001065.4:c.426G>C MANE Select	NP_001056.1:p.Gln142His
NM_001346091.2:c.102G>C	NP_001333020.1:p.Gln34His
NM_001346092.2:c.-152G>C	NP_001333021.1:n.-152G>C
NR_144351.2:n.688G>C