Canonical Allele Identifier: CA385396373
Community Standard Title: NM_003153.5(STAT6):c.1114G>A (p.Glu372Lys)
Gene: STAT6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57104562C>T , CM000674.2:g.57104562C>T GRCh38
NC_000012.11:g.57498345C>T , CM000674.1:g.57498345C>T GRCh37
NC_000012.10:g.55784612C>T NCBI36
NG_021272.1:g.11852G>A
NG_021272.2:g.32578G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003153.5:c.1114G>A MANE Select NP_003144.3:p.Glu372Lys
ENST00000300134.8:c.1114G>A MANE Select ENSP00000300134.3:p.Glu372Lys
NM_001178078.1:c.1114G>A NP_001171549.1:p.Glu372Lys
NM_001178078.2:c.1114G>A NP_001171549.1:p.Glu372Lys
NM_001178079.1:c.1114G>A NP_001171550.1:p.Glu372Lys
NM_001178079.2:c.1114G>A NP_001171550.1:p.Glu372Lys
NM_001178080.1:c.784G>A NP_001171551.1:p.Glu262Lys
NM_001178080.2:c.784G>A NP_001171551.1:p.Glu262Lys
NM_001178081.1:c.784G>A NP_001171552.1:p.Glu262Lys
NM_001178081.2:c.784G>A NP_001171552.1:p.Glu262Lys
NM_003153.4:c.1114G>A NP_003144.3:p.Glu372Lys
NR_033659.1:n.1281G>A
NR_033659.2:n.1230G>A
ENST00000300134.7:c.1114G>A ENSP00000300134.3:p.Glu372Lys
ENST00000454075.7:c.1114G>A ENSP00000401486.3:p.Glu372Lys
ENST00000537215.6:c.784G>A ENSP00000444530.2:p.Glu262Lys
ENST00000538913.6:c.784G>A ENSP00000445409.2:p.Glu262Lys
ENST00000543873.6:c.1114G>A ENSP00000438451.2:p.Glu372Lys
ENST00000553533.1:c.215G>A
ENST00000553533.2:c.1114G>A ENSP00000451546.2:p.Glu372Lys
ENST00000554764.5:c.*858G>A ENSP00000451909.1:n.*858G>A
ENST00000554764.6:c.*858G>A ENSP00000451909.1:n.*858G>A
ENST00000555641.1:n.1710G>A
ENST00000556155.5:c.1114G>A ENSP00000451742.1:p.Glu372Lys
ENST00000557781.5:n.280G>A
ENST00000640254.2:c.1114G>A ENSP00000491116.2:p.Glu372Lys
ENST00000651176.1:c.1114G>A ENSP00000498693.1:p.Glu372Lys
XM_006719574.1:c.1114G>A XP_006719637.1:p.Glu372Lys
XM_006719575.1:c.1114G>A XP_006719638.1:p.Glu372Lys
XM_011538703.1:c.1114G>A XP_011537005.1:p.Glu372Lys
XM_011538703.3:c.1114G>A XP_011537005.1:p.Glu372Lys
XM_011538704.1:c.1114G>A XP_011537006.1:p.Glu372Lys
XM_011538704.3:c.1114G>A XP_011537006.1:p.Glu372Lys
XM_011538705.1:c.1114G>A XP_011537007.1:p.Glu372Lys
XM_011538705.3:c.1114G>A XP_011537007.1:p.Glu372Lys
XM_011538706.1:c.1114G>A XP_011537008.1:p.Glu372Lys
XM_011538707.1:c.1114G>A XP_011537009.1:p.Glu372Lys
XM_011538707.3:c.1114G>A XP_011537009.1:p.Glu372Lys
XM_011538708.1:c.784G>A XP_011537010.1:p.Glu262Lys
XM_011538708.3:c.784G>A XP_011537010.1:p.Glu262Lys
XM_011538709.1:c.784G>A XP_011537011.1:p.Glu262Lys