Canonical Allele Identifier: CA2294855973
Gene: ASXL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739431T= , CM000680.2:g.33739431T= GRCh38
NC_000018.9:g.31319395T= , CM000680.1:g.31319395T= GRCh37
NC_000018.8:g.29573393T= NCBI36
NG_055244.1:g.165855T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.2030T= ENSP00000513003.1:p.Leu677=
ENST00000269197.12:c.2027T= MANE Select ENSP00000269197.4:p.Leu676=
ENST00000592288.6:c.*1151T= ENSP00000465053.1:n.*1151T=
ENST00000592541.6:c.*1686T= ENSP00000466655.2:n.*1686T=
ENST00000593195.6:c.2239T= ENSP00000466073.1:n.2239T=
ENST00000642541.1:c.1859T= ENSP00000493665.1:p.Leu620=
ENST00000681521.1:c.1907T= ENSP00000506037.1:p.Leu636=
ENST00000269197.9:c.2027T= ENSP00000269197.4:p.Leu676=
ENST00000592288.5:c.*1151T= ENSP00000465053.1:n.*1151T=
NM_030632.1:c.2027T= NP_085135.1:p.Leu676=
XM_005258356.1:c.2030T= XP_005258413.1:p.Leu677=
XM_011526205.1:c.2003T= XP_011524507.1:p.Leu668=
XM_011526206.1:c.1949T= XP_011524508.1:p.Leu650=
XM_011526207.1:c.1949T= XP_011524509.1:p.Leu650=
XM_011526208.1:c.1910T= XP_011524510.1:p.Leu637=
XM_011526209.1:c.1859T= XP_011524511.1:p.Leu620=
XM_011526210.1:c.1859T= XP_011524512.1:p.Leu620=
XM_011526211.1:c.1859T= XP_011524513.1:p.Leu620=
XM_011526212.1:c.1859T= XP_011524514.1:p.Leu620=
XM_011526213.1:c.1859T= XP_011524515.1:p.Leu620=
XM_011526214.1:c.1859T= XP_011524516.1:p.Leu620=
NM_030632.2:c.2027T= NP_085135.1:p.Leu676=
XM_011526205.2:c.2003T= XP_011524507.1:p.Leu668=
XM_011526206.2:c.1949T= XP_011524508.1:p.Leu650=
XM_011526213.2:c.1859T= XP_011524515.1:p.Leu620=
XM_017026012.1:c.1949T= XP_016881501.1:p.Leu650=
XM_017026013.1:c.1859T= XP_016881502.1:p.Leu620=
XM_017026014.2:c.1859T= XP_016881503.1:p.Leu620=
XM_024451269.1:c.1859T= XP_024307037.1:p.Leu620=
NM_030632.3:c.2027T= MANE Select NP_085135.1:p.Leu676=