Canonical Allele Identifier: CA3435254
Community Standard Title: NM_198282.4(STING1):c.992G>A (p.Arg331Gln)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139476409C>T , CM000667.2:g.139476409C>T GRCh38
NC_000005.9:g.138855994C>T , CM000667.1:g.138855994C>T GRCh37
NC_000005.8:g.138836178C>T NCBI36
NG_034249.1:g.11382G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.992G>A MANE Select NP_938023.1:p.Arg331Gln
ENST00000330794.9:c.992G>A MANE Select ENSP00000331288.4:p.Arg331Gln
NM_001301738.1:c.805G>A NP_001288667.1:p.Gly269Ser
NM_001301738.2:c.805G>A NP_001288667.1:p.Gly269Ser
NM_001367258.1:c.635G>A NP_001354187.1:p.Arg212Gln
NM_198282.3:c.992G>A NP_938023.1:p.Arg331Gln
ENST00000330794.8:c.992G>A ENSP00000331288.4:p.Arg331Gln
ENST00000502362.2:n.1767G>A
ENST00000503287.5:n.884G>A
ENST00000507297.5:n.2325G>A
ENST00000509573.5:n.604G>A
ENST00000510817.2:c.805G>A ENSP00000427455.2:p.Gly269Ser
ENST00000511886.6:n.2098G>A
ENST00000512606.5:n.730G>A
ENST00000512606.6:n.1228G>A
ENST00000514119.6:n.1024G>A
ENST00000650883.1:c.*409G>A ENSP00000499142.1:n.*409G>A
ENST00000651565.1:c.635G>A ENSP00000498768.1:p.Arg212Gln
ENST00000651699.1:c.992G>A ENSP00000499166.1:p.Arg331Gln
ENST00000652110.1:c.805G>A ENSP00000498513.1:p.Gly269Ser
ENST00000652271.1:c.992G>A ENSP00000498596.1:p.Arg331Gln
ENST00000652293.1:n.1800G>A
ENST00000652543.1:c.448G>A ENSP00000498683.1:p.Gly150Ser
ENST00000652640.1:n.1379G>A
XM_005268445.2:c.805G>A XP_005268502.1:p.Gly269Ser
XM_005268445.4:c.805G>A XP_005268502.1:p.Gly269Ser
XM_011537640.1:c.635G>A XP_011535942.1:p.Arg212Gln
XM_011537640.2:c.635G>A XP_011535942.1:p.Arg212Gln