Canonical Allele Identifier: CA503768399

Gene: ASXL3

Linked Data

• dbSNP Id: rs2067597944
• MyVariant Identifiers: chr18:g.31318863T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738899T>C , CM000680.2:g.33738899T>C	GRCh38
NC_000018.9:g.31318863T>C , CM000680.1:g.31318863T>C	GRCh37
NC_000018.8:g.29572861T>C	NCBI36
NG_055244.1:g.165323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1498T>C	ENSP00000513003.1:p.Leu500=
ENST00000269197.12:c.1495T>C MANE Select	ENSP00000269197.4:p.Leu499=
ENST00000592288.6:c.*619T>C	ENSP00000465053.1:n.*619T>C
ENST00000592541.6:c.*1154T>C	ENSP00000466655.2:n.*1154T>C
ENST00000593195.6:c.1707T>C	ENSP00000466073.1:n.1707T>C
ENST00000642541.1:c.1327T>C	ENSP00000493665.1:p.Leu443=
ENST00000681521.1:c.1375T>C	ENSP00000506037.1:p.Leu459=
ENST00000269197.9:c.1495T>C	ENSP00000269197.4:p.Leu499=
ENST00000592288.5:c.*619T>C	ENSP00000465053.1:n.*619T>C
NM_030632.1:c.1495T>C	NP_085135.1:p.Leu499=
XM_005258356.1:c.1498T>C	XP_005258413.1:p.Leu500=
XM_011526205.1:c.1471T>C	XP_011524507.1:p.Leu491=
XM_011526206.1:c.1417T>C	XP_011524508.1:p.Leu473=
XM_011526207.1:c.1417T>C	XP_011524509.1:p.Leu473=
XM_011526208.1:c.1378T>C	XP_011524510.1:p.Leu460=
XM_011526209.1:c.1327T>C	XP_011524511.1:p.Leu443=
XM_011526210.1:c.1327T>C	XP_011524512.1:p.Leu443=
XM_011526211.1:c.1327T>C	XP_011524513.1:p.Leu443=
XM_011526212.1:c.1327T>C	XP_011524514.1:p.Leu443=
XM_011526213.1:c.1327T>C	XP_011524515.1:p.Leu443=
XM_011526214.1:c.1327T>C	XP_011524516.1:p.Leu443=
NM_030632.2:c.1495T>C	NP_085135.1:p.Leu499=
XM_011526205.2:c.1471T>C	XP_011524507.1:p.Leu491=
XM_011526206.2:c.1417T>C	XP_011524508.1:p.Leu473=
XM_011526213.2:c.1327T>C	XP_011524515.1:p.Leu443=
XM_017026012.1:c.1417T>C	XP_016881501.1:p.Leu473=
XM_017026013.1:c.1327T>C	XP_016881502.1:p.Leu443=
XM_017026014.2:c.1327T>C	XP_016881503.1:p.Leu443=
XM_024451269.1:c.1327T>C	XP_024307037.1:p.Leu443=
NM_030632.3:c.1495T>C MANE Select	NP_085135.1:p.Leu499=