Canonical Allele Identifier: CA3435512
Community Standard Title: NM_198282.4(STING1):c.40A>C (p.Arg14=)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139481665T>G , CM000667.2:g.139481665T>G GRCh38
NC_000005.9:g.138861250T>G , CM000667.1:g.138861250T>G GRCh37
NC_000005.8:g.138841434T>G NCBI36
NG_034249.1:g.6126A>C

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.40A>C MANE Select NP_938023.1:p.Arg14=
ENST00000330794.9:c.40A>C MANE Select ENSP00000331288.4:p.Arg14=
NM_001301738.1:c.40A>C NP_001288667.1:p.Arg14=
NM_001301738.2:c.40A>C NP_001288667.1:p.Arg14=
NM_001367258.1:c.-130-323A>C NP_001354187.1:n.-130-323A>C
NM_198282.3:c.40A>C NP_938023.1:p.Arg14=
ENST00000330794.8:c.40A>C ENSP00000331288.4:p.Arg14=
ENST00000502362.1:n.141A>C
ENST00000502362.2:n.680A>C
ENST00000507297.5:n.282A>C
ENST00000510817.1:c.40A>C ENSP00000427455.1:p.Arg14=
ENST00000510817.2:c.40A>C ENSP00000427455.2:p.Arg14=
ENST00000511850.1:n.127A>C
ENST00000511886.5:n.234-323A>C
ENST00000511886.6:n.847A>C
ENST00000512606.6:n.141A>C
ENST00000514119.5:n.342A>C
ENST00000514119.6:n.124A>C
ENST00000514348.1:n.459A>C
ENST00000515507.5:n.141A>C
ENST00000650883.1:c.-203-115A>C ENSP00000499142.1:n.-203-115A>C
ENST00000651565.1:c.-130-323A>C ENSP00000498768.1:n.-130-323A>C
ENST00000651699.1:c.40A>C ENSP00000499166.1:p.Arg14=
ENST00000652110.1:c.40A>C ENSP00000498513.1:p.Arg14=
ENST00000652271.1:c.40A>C ENSP00000498596.1:p.Arg14=
ENST00000652543.1:c.-130-323A>C ENSP00000498683.1:n.-130-323A>C
XM_005268445.2:c.40A>C XP_005268502.1:p.Arg14=
XM_005268445.4:c.40A>C XP_005268502.1:p.Arg14=
XM_011537639.1:c.40A>C XP_011535941.1:p.Arg14=
XM_011537639.3:c.40A>C XP_011535941.1:p.Arg14=
XM_011537640.1:c.-130-323A>C XP_011535942.1:n.-130-323A>C
XM_011537640.2:c.-130-323A>C XP_011535942.1:n.-130-323A>C