Canonical Allele Identifier: CA402185990

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743585C>A , CM000680.2:g.33743585C>A	GRCh38
NC_000018.9:g.31323549C>A , CM000680.1:g.31323549C>A	GRCh37
NC_000018.8:g.29577547C>A	NCBI36
NG_055244.1:g.170009C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_030632.3:c.3737C>A MANE Select	NP_085135.1:p.Ser1246Ter
ENST00000269197.12:c.3737C>A MANE Select	ENSP00000269197.4:p.Ser1246Ter
NM_030632.1:c.3737C>A	NP_085135.1:p.Ser1246Ter
NM_030632.2:c.3737C>A	NP_085135.1:p.Ser1246Ter
ENST00000269197.9:c.3737C>A	ENSP00000269197.4:p.Ser1246Ter
ENST00000593195.6:c.3949C>A	ENSP00000466073.1:n.3949C>A
ENST00000642541.1:c.3569C>A	ENSP00000493665.1:p.Ser1190Ter
ENST00000681521.1:c.3617C>A	ENSP00000506037.1:p.Ser1206Ter
ENST00000696964.1:c.3740C>A	ENSP00000513003.1:p.Ser1247Ter
XM_005258356.1:c.3740C>A	XP_005258413.1:p.Ser1247Ter
XM_011526205.1:c.3713C>A	XP_011524507.1:p.Ser1238Ter
XM_011526205.2:c.3713C>A	XP_011524507.1:p.Ser1238Ter
XM_011526206.1:c.3659C>A	XP_011524508.1:p.Ser1220Ter
XM_011526206.2:c.3659C>A	XP_011524508.1:p.Ser1220Ter
XM_011526207.1:c.3659C>A	XP_011524509.1:p.Ser1220Ter
XM_011526208.1:c.3620C>A	XP_011524510.1:p.Ser1207Ter
XM_011526209.1:c.3569C>A	XP_011524511.1:p.Ser1190Ter
XM_011526210.1:c.3569C>A	XP_011524512.1:p.Ser1190Ter
XM_011526211.1:c.3569C>A	XP_011524513.1:p.Ser1190Ter
XM_011526212.1:c.3569C>A	XP_011524514.1:p.Ser1190Ter
XM_011526213.1:c.3569C>A	XP_011524515.1:p.Ser1190Ter
XM_011526213.2:c.3569C>A	XP_011524515.1:p.Ser1190Ter
XM_011526214.1:c.3569C>A	XP_011524516.1:p.Ser1190Ter
XM_011526215.1:c.701C>A	XP_011524517.1:p.Ser234Ter
XM_017026012.1:c.3659C>A	XP_016881501.1:p.Ser1220Ter
XM_017026013.1:c.3569C>A	XP_016881502.1:p.Ser1190Ter
XM_017026014.2:c.3569C>A	XP_016881503.1:p.Ser1190Ter
XM_024451269.1:c.3569C>A	XP_024307037.1:p.Ser1190Ter