Canonical Allele Identifier: CA3435450
Community Standard Title: NM_198282.4(STING1):c.289G>A (p.Ala97Thr)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139481281C>T , CM000667.2:g.139481281C>T GRCh38
NC_000005.9:g.138860866C>T , CM000667.1:g.138860866C>T GRCh37
NC_000005.8:g.138841050C>T NCBI36
NG_034249.1:g.6510G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.289G>A MANE Select NP_938023.1:p.Ala97Thr
ENST00000330794.9:c.289G>A MANE Select ENSP00000331288.4:p.Ala97Thr
NM_001301738.1:c.289G>A NP_001288667.1:p.Ala97Thr
NM_001301738.2:c.289G>A NP_001288667.1:p.Ala97Thr
NM_001367258.1:c.-69G>A NP_001354187.1:n.-69G>A
NM_198282.3:c.289G>A NP_938023.1:p.Ala97Thr
ENST00000330794.8:c.289G>A ENSP00000331288.4:p.Ala97Thr
ENST00000502362.1:n.525G>A
ENST00000502362.2:n.1064G>A
ENST00000503287.5:n.181G>A
ENST00000503838.1:n.69G>A
ENST00000507297.5:n.666G>A
ENST00000509573.5:n.88G>A
ENST00000510817.1:c.289G>A ENSP00000427455.1:p.Ala97Thr
ENST00000510817.2:c.289G>A ENSP00000427455.2:p.Ala97Thr
ENST00000511850.1:n.511G>A
ENST00000511886.5:n.295G>A
ENST00000511886.6:n.1231G>A
ENST00000512606.5:n.214G>A
ENST00000512606.6:n.525G>A
ENST00000514119.5:n.726G>A
ENST00000514119.6:n.508G>A
ENST00000515507.5:n.390G>A
ENST00000650883.1:c.-69G>A ENSP00000499142.1:n.-69G>A
ENST00000651565.1:c.-69G>A ENSP00000498768.1:n.-69G>A
ENST00000651699.1:c.289G>A ENSP00000499166.1:p.Ala97Thr
ENST00000652110.1:c.289G>A ENSP00000498513.1:p.Ala97Thr
ENST00000652271.1:c.289G>A ENSP00000498596.1:p.Ala97Thr
ENST00000652543.1:c.-69G>A ENSP00000498683.1:n.-69G>A
XM_005268445.2:c.289G>A XP_005268502.1:p.Ala97Thr
XM_005268445.4:c.289G>A XP_005268502.1:p.Ala97Thr
XM_011537639.1:c.289G>A XP_011535941.1:p.Ala97Thr
XM_011537639.3:c.289G>A XP_011535941.1:p.Ala97Thr
XM_011537640.1:c.-69G>A XP_011535942.1:n.-69G>A
XM_011537640.2:c.-69G>A XP_011535942.1:n.-69G>A