Canonical Allele Identifier: CA3435309
Community Standard Title: NM_198282.4(STING1):c.763G>A (p.Gly255Ser)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139477512C>T , CM000667.2:g.139477512C>T GRCh38
NC_000005.9:g.138857097C>T , CM000667.1:g.138857097C>T GRCh37
NC_000005.8:g.138837281C>T NCBI36
NG_034249.1:g.10279G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.763G>A MANE Select NP_938023.1:p.Gly255Ser
ENST00000330794.9:c.763G>A MANE Select ENSP00000331288.4:p.Gly255Ser
NM_001301738.1:c.759+758G>A NP_001288667.1:n.759+758G>A
NM_001301738.2:c.759+758G>A NP_001288667.1:n.759+758G>A
NM_001367258.1:c.406G>A NP_001354187.1:p.Gly136Ser
NM_198282.3:c.763G>A NP_938023.1:p.Gly255Ser
ENST00000330794.8:c.763G>A ENSP00000331288.4:p.Gly255Ser
ENST00000502362.2:n.1538G>A
ENST00000502825.1:n.541G>A
ENST00000503287.5:n.655G>A
ENST00000507297.5:n.2096G>A
ENST00000509573.5:n.558+758G>A
ENST00000510817.2:c.759+758G>A ENSP00000427455.2:n.759+758G>A
ENST00000511886.5:n.769G>A
ENST00000511886.6:n.1869G>A
ENST00000512606.5:n.684+758G>A
ENST00000512606.6:n.999G>A
ENST00000514119.6:n.978+758G>A
ENST00000650883.1:c.*180G>A ENSP00000499142.1:n.*180G>A
ENST00000651565.1:c.406G>A ENSP00000498768.1:p.Gly136Ser
ENST00000651699.1:c.763G>A ENSP00000499166.1:p.Gly255Ser
ENST00000652110.1:c.759+758G>A ENSP00000498513.1:n.759+758G>A
ENST00000652271.1:c.763G>A ENSP00000498596.1:p.Gly255Ser
ENST00000652293.1:n.1571G>A
ENST00000652543.1:c.402+758G>A ENSP00000498683.1:n.402+758G>A
ENST00000652640.1:n.1333+758G>A
XM_005268445.2:c.759+758G>A XP_005268502.1:n.759+758G>A
XM_005268445.4:c.759+758G>A XP_005268502.1:n.759+758G>A
XM_011537640.1:c.406G>A XP_011535942.1:p.Gly136Ser
XM_011537640.2:c.406G>A XP_011535942.1:p.Gly136Ser