Canonical Allele Identifier: CA402176383
Gene: ASXL3 HGNC NCBI

Linked Data

dbSNP Id: rs762650572

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739212C>A , CM000680.2:g.33739212C>A GRCh38
NC_000018.9:g.31319176C>A , CM000680.1:g.31319176C>A GRCh37
NC_000018.8:g.29573174C>A NCBI36
NG_055244.1:g.165636C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.1811C>A ENSP00000513003.1:p.Ser604Ter
ENST00000269197.12:c.1808C>A MANE Select ENSP00000269197.4:p.Ser603Ter
ENST00000592288.6:c.*932C>A ENSP00000465053.1:n.*932C>A
ENST00000592541.6:c.*1467C>A ENSP00000466655.2:n.*1467C>A
ENST00000593195.6:c.2020C>A ENSP00000466073.1:n.2020C>A
ENST00000642541.1:c.1640C>A ENSP00000493665.1:p.Ser547Ter
ENST00000681521.1:c.1688C>A ENSP00000506037.1:p.Ser563Ter
ENST00000269197.9:c.1808C>A ENSP00000269197.4:p.Ser603Ter
ENST00000592288.5:c.*932C>A ENSP00000465053.1:n.*932C>A
NM_030632.1:c.1808C>A NP_085135.1:p.Ser603Ter
XM_005258356.1:c.1811C>A XP_005258413.1:p.Ser604Ter
XM_011526205.1:c.1784C>A XP_011524507.1:p.Ser595Ter
XM_011526206.1:c.1730C>A XP_011524508.1:p.Ser577Ter
XM_011526207.1:c.1730C>A XP_011524509.1:p.Ser577Ter
XM_011526208.1:c.1691C>A XP_011524510.1:p.Ser564Ter
XM_011526209.1:c.1640C>A XP_011524511.1:p.Ser547Ter
XM_011526210.1:c.1640C>A XP_011524512.1:p.Ser547Ter
XM_011526211.1:c.1640C>A XP_011524513.1:p.Ser547Ter
XM_011526212.1:c.1640C>A XP_011524514.1:p.Ser547Ter
XM_011526213.1:c.1640C>A XP_011524515.1:p.Ser547Ter
XM_011526214.1:c.1640C>A XP_011524516.1:p.Ser547Ter
NM_030632.2:c.1808C>A NP_085135.1:p.Ser603Ter
XM_011526205.2:c.1784C>A XP_011524507.1:p.Ser595Ter
XM_011526206.2:c.1730C>A XP_011524508.1:p.Ser577Ter
XM_011526213.2:c.1640C>A XP_011524515.1:p.Ser547Ter
XM_017026012.1:c.1730C>A XP_016881501.1:p.Ser577Ter
XM_017026013.1:c.1640C>A XP_016881502.1:p.Ser547Ter
XM_017026014.2:c.1640C>A XP_016881503.1:p.Ser547Ter
XM_024451269.1:c.1640C>A XP_024307037.1:p.Ser547Ter
NM_030632.3:c.1808C>A MANE Select NP_085135.1:p.Ser603Ter