Canonical Allele Identifier: CA16043634
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374244
ClinVar RCV Id: RCV000415197
dbSNP Id: rs1057519005

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739390C>A , CM000680.2:g.33739390C>A GRCh38
NC_000018.9:g.31319354C>A , CM000680.1:g.31319354C>A GRCh37
NC_000018.8:g.29573352C>A NCBI36
NG_055244.1:g.165814C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696964.1:c.1989C>A ENSP00000513003.1:p.Tyr663Ter
ENST00000269197.12:c.1986C>A MANE Select ENSP00000269197.4:p.Tyr662Ter
ENST00000592288.6:c.*1110C>A ENSP00000465053.1:n.*1110C>A
ENST00000592541.6:c.*1645C>A ENSP00000466655.2:n.*1645C>A
ENST00000593195.6:c.2198C>A ENSP00000466073.1:n.2198C>A
ENST00000642541.1:c.1818C>A ENSP00000493665.1:p.Tyr606Ter
ENST00000681521.1:c.1866C>A ENSP00000506037.1:p.Tyr622Ter
ENST00000269197.9:c.1986C>A ENSP00000269197.4:p.Tyr662Ter
ENST00000592288.5:c.*1110C>A ENSP00000465053.1:n.*1110C>A
NM_030632.1:c.1986C>A NP_085135.1:p.Tyr662Ter
XM_005258356.1:c.1989C>A XP_005258413.1:p.Tyr663Ter
XM_011526205.1:c.1962C>A XP_011524507.1:p.Tyr654Ter
XM_011526206.1:c.1908C>A XP_011524508.1:p.Tyr636Ter
XM_011526207.1:c.1908C>A XP_011524509.1:p.Tyr636Ter
XM_011526208.1:c.1869C>A XP_011524510.1:p.Tyr623Ter
XM_011526209.1:c.1818C>A XP_011524511.1:p.Tyr606Ter
XM_011526210.1:c.1818C>A XP_011524512.1:p.Tyr606Ter
XM_011526211.1:c.1818C>A XP_011524513.1:p.Tyr606Ter
XM_011526212.1:c.1818C>A XP_011524514.1:p.Tyr606Ter
XM_011526213.1:c.1818C>A XP_011524515.1:p.Tyr606Ter
XM_011526214.1:c.1818C>A XP_011524516.1:p.Tyr606Ter
NM_030632.2:c.1986C>A NP_085135.1:p.Tyr662Ter
XM_011526205.2:c.1962C>A XP_011524507.1:p.Tyr654Ter
XM_011526206.2:c.1908C>A XP_011524508.1:p.Tyr636Ter
XM_011526213.2:c.1818C>A XP_011524515.1:p.Tyr606Ter
XM_017026012.1:c.1908C>A XP_016881501.1:p.Tyr636Ter
XM_017026013.1:c.1818C>A XP_016881502.1:p.Tyr606Ter
XM_017026014.2:c.1818C>A XP_016881503.1:p.Tyr606Ter
XM_024451269.1:c.1818C>A XP_024307037.1:p.Tyr606Ter
NM_030632.3:c.1986C>A MANE Select NP_085135.1:p.Tyr662Ter