Canonical Allele Identifier: CA8933780

Gene: ASXL3

Linked Data

• dbSNP Id: rs757878086
• ExAC: 18:31318976 G / A
• gnomAD v2: 18-31318976-G-A
• gnomAD v4: 18-33739012-G-A
• MyVariant Identifiers: chr18:g.31318976G>A (hg19) ; chr18:g.33739012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739012G>A , CM000680.2:g.33739012G>A	GRCh38
NC_000018.9:g.31318976G>A , CM000680.1:g.31318976G>A	GRCh37
NC_000018.8:g.29572974G>A	NCBI36
NG_055244.1:g.165436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1611G>A	ENSP00000513003.1:p.Gln537=
ENST00000269197.12:c.1608G>A MANE Select	ENSP00000269197.4:p.Gln536=
ENST00000592288.6:c.*732G>A	ENSP00000465053.1:n.*732G>A
ENST00000592541.6:c.*1267G>A	ENSP00000466655.2:n.*1267G>A
ENST00000593195.6:c.1820G>A	ENSP00000466073.1:n.1820G>A
ENST00000642541.1:c.1440G>A	ENSP00000493665.1:p.Gln480=
ENST00000681521.1:c.1488G>A	ENSP00000506037.1:p.Gln496=
ENST00000269197.9:c.1608G>A	ENSP00000269197.4:p.Gln536=
ENST00000592288.5:c.*732G>A	ENSP00000465053.1:n.*732G>A
NM_030632.1:c.1608G>A	NP_085135.1:p.Gln536=
XM_005258356.1:c.1611G>A	XP_005258413.1:p.Gln537=
XM_011526205.1:c.1584G>A	XP_011524507.1:p.Gln528=
XM_011526206.1:c.1530G>A	XP_011524508.1:p.Gln510=
XM_011526207.1:c.1530G>A	XP_011524509.1:p.Gln510=
XM_011526208.1:c.1491G>A	XP_011524510.1:p.Gln497=
XM_011526209.1:c.1440G>A	XP_011524511.1:p.Gln480=
XM_011526210.1:c.1440G>A	XP_011524512.1:p.Gln480=
XM_011526211.1:c.1440G>A	XP_011524513.1:p.Gln480=
XM_011526212.1:c.1440G>A	XP_011524514.1:p.Gln480=
XM_011526213.1:c.1440G>A	XP_011524515.1:p.Gln480=
XM_011526214.1:c.1440G>A	XP_011524516.1:p.Gln480=
NM_030632.2:c.1608G>A	NP_085135.1:p.Gln536=
XM_011526205.2:c.1584G>A	XP_011524507.1:p.Gln528=
XM_011526206.2:c.1530G>A	XP_011524508.1:p.Gln510=
XM_011526213.2:c.1440G>A	XP_011524515.1:p.Gln480=
XM_017026012.1:c.1530G>A	XP_016881501.1:p.Gln510=
XM_017026013.1:c.1440G>A	XP_016881502.1:p.Gln480=
XM_017026014.2:c.1440G>A	XP_016881503.1:p.Gln480=
XM_024451269.1:c.1440G>A	XP_024307037.1:p.Gln480=
NM_030632.3:c.1608G>A MANE Select	NP_085135.1:p.Gln536=