Canonical Allele Identifier: CA3435289
Community Standard Title: NM_198282.4(STING1):c.929G>A (p.Arg310His)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139477346C>T , CM000667.2:g.139477346C>T GRCh38
NC_000005.9:g.138856931C>T , CM000667.1:g.138856931C>T GRCh37
NC_000005.8:g.138837115C>T NCBI36
NG_034249.1:g.10445G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.929G>A MANE Select NP_938023.1:p.Arg310His
ENST00000330794.9:c.929G>A MANE Select ENSP00000331288.4:p.Arg310His
NM_001301738.1:c.760-892G>A NP_001288667.1:n.760-892G>A
NM_001301738.2:c.760-892G>A NP_001288667.1:n.760-892G>A
NM_001367258.1:c.572G>A NP_001354187.1:p.Arg191His
NM_198282.3:c.929G>A NP_938023.1:p.Arg310His
ENST00000330794.8:c.929G>A ENSP00000331288.4:p.Arg310His
ENST00000502362.2:n.1704G>A
ENST00000503287.5:n.821G>A
ENST00000507297.5:n.2262G>A
ENST00000509573.5:n.559-892G>A
ENST00000510817.2:c.760-892G>A ENSP00000427455.2:n.760-892G>A
ENST00000511886.6:n.2035G>A
ENST00000512606.5:n.685-892G>A
ENST00000512606.6:n.1165G>A
ENST00000514119.6:n.979-892G>A
ENST00000650883.1:c.*346G>A ENSP00000499142.1:n.*346G>A
ENST00000651565.1:c.572G>A ENSP00000498768.1:p.Arg191His
ENST00000651699.1:c.929G>A ENSP00000499166.1:p.Arg310His
ENST00000652110.1:c.760-892G>A ENSP00000498513.1:n.760-892G>A
ENST00000652271.1:c.929G>A ENSP00000498596.1:p.Arg310His
ENST00000652293.1:n.1737G>A
ENST00000652543.1:c.403-892G>A ENSP00000498683.1:n.403-892G>A
ENST00000652640.1:n.1334-892G>A
XM_005268445.2:c.760-892G>A XP_005268502.1:n.760-892G>A
XM_005268445.4:c.760-892G>A XP_005268502.1:n.760-892G>A
XM_011537640.1:c.572G>A XP_011535942.1:p.Arg191His
XM_011537640.2:c.572G>A XP_011535942.1:p.Arg191His