Canonical Allele Identifier: CA3435428
Community Standard Title: NM_198282.4(STING1):c.398T>A (p.Leu133His)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139481172A>T , CM000667.2:g.139481172A>T GRCh38
NC_000005.9:g.138860757A>T , CM000667.1:g.138860757A>T GRCh37
NC_000005.8:g.138840941A>T NCBI36
NG_034249.1:g.6619T>A

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.398T>A MANE Select NP_938023.1:p.Leu133His
ENST00000330794.9:c.398T>A MANE Select ENSP00000331288.4:p.Leu133His
NM_001301738.1:c.398T>A NP_001288667.1:p.Leu133His
NM_001301738.2:c.398T>A NP_001288667.1:p.Leu133His
NM_001367258.1:c.41T>A NP_001354187.1:p.Leu14His
NM_198282.3:c.398T>A NP_938023.1:p.Leu133His
ENST00000330794.8:c.398T>A ENSP00000331288.4:p.Leu133His
ENST00000502362.2:n.1173T>A
ENST00000503287.5:n.290T>A
ENST00000503838.1:n.178T>A
ENST00000507297.5:n.775T>A
ENST00000509573.5:n.197T>A
ENST00000510817.1:c.398T>A ENSP00000427455.1:p.Leu133His
ENST00000510817.2:c.398T>A ENSP00000427455.2:p.Leu133His
ENST00000511850.1:n.620T>A
ENST00000511886.5:n.404T>A
ENST00000511886.6:n.1340T>A
ENST00000512606.5:n.323T>A
ENST00000512606.6:n.634T>A
ENST00000514119.5:n.835T>A
ENST00000514119.6:n.617T>A
ENST00000515507.5:n.485+14T>A
ENST00000650883.1:c.41T>A ENSP00000499142.1:p.Leu14His
ENST00000651565.1:c.41T>A ENSP00000498768.1:p.Leu14His
ENST00000651699.1:c.398T>A ENSP00000499166.1:p.Leu133His
ENST00000652110.1:c.398T>A ENSP00000498513.1:p.Leu133His
ENST00000652271.1:c.398T>A ENSP00000498596.1:p.Leu133His
ENST00000652543.1:c.41T>A ENSP00000498683.1:p.Leu14His
XM_005268445.2:c.398T>A XP_005268502.1:p.Leu133His
XM_005268445.4:c.398T>A XP_005268502.1:p.Leu133His
XM_011537639.1:c.398T>A XP_011535941.1:p.Leu133His
XM_011537639.3:c.398T>A XP_011535941.1:p.Leu133His
XM_011537640.1:c.41T>A XP_011535942.1:p.Leu14His
XM_011537640.2:c.41T>A XP_011535942.1:p.Leu14His