Canonical Allele Identifier: CA385427840
Community Standard Title: NM_003153.5(STAT6):c.1555G>C (p.Asp519His)
Gene: STAT6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57100048C>G , CM000674.2:g.57100048C>G GRCh38
NC_000012.11:g.57493831C>G , CM000674.1:g.57493831C>G GRCh37
NC_000012.10:g.55780098C>G NCBI36
NG_021272.1:g.16366G>C
NG_021272.2:g.37092G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003153.5:c.1555G>C MANE Select NP_003144.3:p.Asp519His
ENST00000300134.8:c.1555G>C MANE Select ENSP00000300134.3:p.Asp519His
NM_001178078.1:c.1555G>C NP_001171549.1:p.Asp519His
NM_001178078.2:c.1555G>C NP_001171549.1:p.Asp519His
NM_001178079.1:c.1555G>C NP_001171550.1:p.Asp519His
NM_001178079.2:c.1555G>C NP_001171550.1:p.Asp519His
NM_001178080.1:c.1225G>C NP_001171551.1:p.Asp409His
NM_001178080.2:c.1225G>C NP_001171551.1:p.Asp409His
NM_001178081.1:c.1225G>C NP_001171552.1:p.Asp409His
NM_001178081.2:c.1225G>C NP_001171552.1:p.Asp409His
NM_003153.4:c.1555G>C NP_003144.3:p.Asp519His
NR_033659.1:n.1722G>C
NR_033659.2:n.1671G>C
ENST00000300134.7:c.1555G>C ENSP00000300134.3:p.Asp519His
ENST00000454075.7:c.1555G>C ENSP00000401486.3:p.Asp519His
ENST00000537215.6:c.1225G>C ENSP00000444530.2:p.Asp409His
ENST00000538913.6:c.1225G>C ENSP00000445409.2:p.Asp409His
ENST00000543873.6:c.1555G>C ENSP00000438451.2:p.Asp519His
ENST00000553533.1:c.710G>C
ENST00000553533.2:c.1609G>C ENSP00000451546.2:p.Asp537His
ENST00000554764.5:c.*1299G>C ENSP00000451909.1:n.*1299G>C
ENST00000554764.6:c.*1299G>C ENSP00000451909.1:n.*1299G>C
ENST00000555222.5:n.201G>C
ENST00000555375.5:c.253G>C ENSP00000450921.1:p.Asp85His
ENST00000556155.5:c.1555G>C ENSP00000451742.1:p.Asp519His
ENST00000640254.2:c.1555G>C ENSP00000491116.2:p.Asp519His
ENST00000651176.1:c.1555G>C ENSP00000498693.1:p.Asp519His
XM_006719574.1:c.1555G>C XP_006719637.1:p.Asp519His
XM_006719575.1:c.1555G>C XP_006719638.1:p.Asp519His
XM_011538703.1:c.1609G>C XP_011537005.1:p.Asp537His
XM_011538703.3:c.1609G>C XP_011537005.1:p.Asp537His
XM_011538704.1:c.1609G>C XP_011537006.1:p.Asp537His
XM_011538704.3:c.1609G>C XP_011537006.1:p.Asp537His
XM_011538705.1:c.1609G>C XP_011537007.1:p.Asp537His
XM_011538705.3:c.1609G>C XP_011537007.1:p.Asp537His
XM_011538706.1:c.1609G>C XP_011537008.1:p.Asp537His
XM_011538707.1:c.1609G>C XP_011537009.1:p.Asp537His
XM_011538707.3:c.1609G>C XP_011537009.1:p.Asp537His
XM_011538708.1:c.1279G>C XP_011537010.1:p.Asp427His
XM_011538708.3:c.1279G>C XP_011537010.1:p.Asp427His
XM_011538709.1:c.1279G>C XP_011537011.1:p.Asp427His