Canonical Allele Identifier: CA361481047
Community Standard Title: NM_198282.4(STING1):c.457T>A (p.Phe153Ile)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139480853A>T , CM000667.2:g.139480853A>T GRCh38
NC_000005.9:g.138860438A>T , CM000667.1:g.138860438A>T GRCh37
NC_000005.8:g.138840622A>T NCBI36
NG_034249.1:g.6938T>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.457T>A MANE Select NP_938023.1:p.Phe153Ile
ENST00000330794.9:c.457T>A MANE Select ENSP00000331288.4:p.Phe153Ile
NM_001301738.1:c.457T>A NP_001288667.1:p.Phe153Ile
NM_001301738.2:c.457T>A NP_001288667.1:p.Phe153Ile
NM_001367258.1:c.100T>A NP_001354187.1:p.Phe34Ile
NM_198282.3:c.457T>A NP_938023.1:p.Phe153Ile
ENST00000330794.8:c.457T>A ENSP00000331288.4:p.Phe153Ile
ENST00000502362.2:n.1232T>A
ENST00000502825.1:n.235T>A
ENST00000503287.5:n.349T>A
ENST00000503838.1:n.497T>A
ENST00000507297.5:n.1094T>A
ENST00000509573.5:n.256T>A
ENST00000510817.1:c.457T>A ENSP00000427455.1:p.Phe153Ile
ENST00000510817.2:c.457T>A ENSP00000427455.2:p.Phe153Ile
ENST00000511850.1:n.679T>A
ENST00000511886.5:n.463T>A
ENST00000511886.6:n.1399T>A
ENST00000512606.5:n.382T>A
ENST00000512606.6:n.693T>A
ENST00000514119.5:n.894T>A
ENST00000514119.6:n.676T>A
ENST00000515507.5:n.503T>A
ENST00000650883.1:c.100T>A ENSP00000499142.1:p.Phe34Ile
ENST00000651565.1:c.100T>A ENSP00000498768.1:p.Phe34Ile
ENST00000651699.1:c.457T>A ENSP00000499166.1:p.Phe153Ile
ENST00000652110.1:c.457T>A ENSP00000498513.1:p.Phe153Ile
ENST00000652271.1:c.457T>A ENSP00000498596.1:p.Phe153Ile
ENST00000652543.1:c.100T>A ENSP00000498683.1:p.Phe34Ile
XM_005268445.2:c.457T>A XP_005268502.1:p.Phe153Ile
XM_005268445.4:c.457T>A XP_005268502.1:p.Phe153Ile
XM_011537639.1:c.457T>A XP_011535941.1:p.Phe153Ile
XM_011537639.3:c.457T>A XP_011535941.1:p.Phe153Ile
XM_011537640.1:c.100T>A XP_011535942.1:p.Phe34Ile
XM_011537640.2:c.100T>A XP_011535942.1:p.Phe34Ile