Canonical Allele Identifier: CA361479624
Community Standard Title: NM_198282.4(STING1):c.842G>A (p.Arg281Gln)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139477433C>T , CM000667.2:g.139477433C>T GRCh38
NC_000005.9:g.138857018C>T , CM000667.1:g.138857018C>T GRCh37
NC_000005.8:g.138837202C>T NCBI36
NG_034249.1:g.10358G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.842G>A MANE Select NP_938023.1:p.Arg281Gln
ENST00000330794.9:c.842G>A MANE Select ENSP00000331288.4:p.Arg281Gln
NM_001301738.1:c.759+837G>A NP_001288667.1:n.759+837G>A
NM_001301738.2:c.759+837G>A NP_001288667.1:n.759+837G>A
NM_001367258.1:c.485G>A NP_001354187.1:p.Arg162Gln
NM_198282.3:c.842G>A NP_938023.1:p.Arg281Gln
ENST00000330794.8:c.842G>A ENSP00000331288.4:p.Arg281Gln
ENST00000502362.2:n.1617G>A
ENST00000503287.5:n.734G>A
ENST00000507297.5:n.2175G>A
ENST00000509573.5:n.558+837G>A
ENST00000510817.2:c.759+837G>A ENSP00000427455.2:n.759+837G>A
ENST00000511886.6:n.1948G>A
ENST00000512606.5:n.684+837G>A
ENST00000512606.6:n.1078G>A
ENST00000514119.6:n.978+837G>A
ENST00000650883.1:c.*259G>A ENSP00000499142.1:n.*259G>A
ENST00000651565.1:c.485G>A ENSP00000498768.1:p.Arg162Gln
ENST00000651699.1:c.842G>A ENSP00000499166.1:p.Arg281Gln
ENST00000652110.1:c.759+837G>A ENSP00000498513.1:n.759+837G>A
ENST00000652271.1:c.842G>A ENSP00000498596.1:p.Arg281Gln
ENST00000652293.1:n.1650G>A
ENST00000652543.1:c.402+837G>A ENSP00000498683.1:n.402+837G>A
ENST00000652640.1:n.1333+837G>A
XM_005268445.2:c.759+837G>A XP_005268502.1:n.759+837G>A
XM_005268445.4:c.759+837G>A XP_005268502.1:n.759+837G>A
XM_011537640.1:c.485G>A XP_011535942.1:p.Arg162Gln
XM_011537640.2:c.485G>A XP_011535942.1:p.Arg162Gln