Canonical Allele Identifier: CA402177103

Gene: ASXL3

Linked Data

• gnomAD v3: 18-33739425-C-A
• gnomAD v4: 18-33739425-C-A
• MyVariant Identifiers: chr18:g.31319389C>A (hg19) ; chr18:g.33739425C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739425C>A , CM000680.2:g.33739425C>A	GRCh38
NC_000018.9:g.31319389C>A , CM000680.1:g.31319389C>A	GRCh37
NC_000018.8:g.29573387C>A	NCBI36
NG_055244.1:g.165849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.2024C>A	ENSP00000513003.1:p.Ala675Glu
ENST00000269197.12:c.2021C>A MANE Select	ENSP00000269197.4:p.Ala674Glu
ENST00000592288.6:c.*1145C>A	ENSP00000465053.1:n.*1145C>A
ENST00000592541.6:c.*1680C>A	ENSP00000466655.2:n.*1680C>A
ENST00000593195.6:c.2233C>A	ENSP00000466073.1:n.2233C>A
ENST00000642541.1:c.1853C>A	ENSP00000493665.1:p.Ala618Glu
ENST00000681521.1:c.1901C>A	ENSP00000506037.1:p.Ala634Glu
ENST00000269197.9:c.2021C>A	ENSP00000269197.4:p.Ala674Glu
ENST00000592288.5:c.*1145C>A	ENSP00000465053.1:n.*1145C>A
NM_030632.1:c.2021C>A	NP_085135.1:p.Ala674Glu
XM_005258356.1:c.2024C>A	XP_005258413.1:p.Ala675Glu
XM_011526205.1:c.1997C>A	XP_011524507.1:p.Ala666Glu
XM_011526206.1:c.1943C>A	XP_011524508.1:p.Ala648Glu
XM_011526207.1:c.1943C>A	XP_011524509.1:p.Ala648Glu
XM_011526208.1:c.1904C>A	XP_011524510.1:p.Ala635Glu
XM_011526209.1:c.1853C>A	XP_011524511.1:p.Ala618Glu
XM_011526210.1:c.1853C>A	XP_011524512.1:p.Ala618Glu
XM_011526211.1:c.1853C>A	XP_011524513.1:p.Ala618Glu
XM_011526212.1:c.1853C>A	XP_011524514.1:p.Ala618Glu
XM_011526213.1:c.1853C>A	XP_011524515.1:p.Ala618Glu
XM_011526214.1:c.1853C>A	XP_011524516.1:p.Ala618Glu
NM_030632.2:c.2021C>A	NP_085135.1:p.Ala674Glu
XM_011526205.2:c.1997C>A	XP_011524507.1:p.Ala666Glu
XM_011526206.2:c.1943C>A	XP_011524508.1:p.Ala648Glu
XM_011526213.2:c.1853C>A	XP_011524515.1:p.Ala618Glu
XM_017026012.1:c.1943C>A	XP_016881501.1:p.Ala648Glu
XM_017026013.1:c.1853C>A	XP_016881502.1:p.Ala618Glu
XM_017026014.2:c.1853C>A	XP_016881503.1:p.Ala618Glu
XM_024451269.1:c.1853C>A	XP_024307037.1:p.Ala618Glu
NM_030632.3:c.2021C>A MANE Select	NP_085135.1:p.Ala674Glu