Canonical Allele Identifier: CA402175267

Gene: ASXL3

Linked Data

• dbSNP Id: rs1568359492
• MyVariant Identifiers: chr18:g.31318782A>C (hg19) ; chr18:g.33738818A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738818A>C , CM000680.2:g.33738818A>C	GRCh38
NC_000018.9:g.31318782A>C , CM000680.1:g.31318782A>C	GRCh37
NC_000018.8:g.29572780A>C	NCBI36
NG_055244.1:g.165242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1417A>C	ENSP00000513003.1:p.Thr473Pro
ENST00000269197.12:c.1414A>C MANE Select	ENSP00000269197.4:p.Thr472Pro
ENST00000592288.6:c.*538A>C	ENSP00000465053.1:n.*538A>C
ENST00000592541.6:c.*1073A>C	ENSP00000466655.2:n.*1073A>C
ENST00000593195.6:c.1626A>C	ENSP00000466073.1:n.1626A>C
ENST00000642541.1:c.1246A>C	ENSP00000493665.1:p.Thr416Pro
ENST00000681521.1:c.1294A>C	ENSP00000506037.1:p.Thr432Pro
ENST00000269197.9:c.1414A>C	ENSP00000269197.4:p.Thr472Pro
ENST00000592288.5:c.*538A>C	ENSP00000465053.1:n.*538A>C
NM_030632.1:c.1414A>C	NP_085135.1:p.Thr472Pro
XM_005258356.1:c.1417A>C	XP_005258413.1:p.Thr473Pro
XM_011526205.1:c.1390A>C	XP_011524507.1:p.Thr464Pro
XM_011526206.1:c.1336A>C	XP_011524508.1:p.Thr446Pro
XM_011526207.1:c.1336A>C	XP_011524509.1:p.Thr446Pro
XM_011526208.1:c.1297A>C	XP_011524510.1:p.Thr433Pro
XM_011526209.1:c.1246A>C	XP_011524511.1:p.Thr416Pro
XM_011526210.1:c.1246A>C	XP_011524512.1:p.Thr416Pro
XM_011526211.1:c.1246A>C	XP_011524513.1:p.Thr416Pro
XM_011526212.1:c.1246A>C	XP_011524514.1:p.Thr416Pro
XM_011526213.1:c.1246A>C	XP_011524515.1:p.Thr416Pro
XM_011526214.1:c.1246A>C	XP_011524516.1:p.Thr416Pro
NM_030632.2:c.1414A>C	NP_085135.1:p.Thr472Pro
XM_011526205.2:c.1390A>C	XP_011524507.1:p.Thr464Pro
XM_011526206.2:c.1336A>C	XP_011524508.1:p.Thr446Pro
XM_011526213.2:c.1246A>C	XP_011524515.1:p.Thr416Pro
XM_017026012.1:c.1336A>C	XP_016881501.1:p.Thr446Pro
XM_017026013.1:c.1246A>C	XP_016881502.1:p.Thr416Pro
XM_017026014.2:c.1246A>C	XP_016881503.1:p.Thr416Pro
XM_024451269.1:c.1246A>C	XP_024307037.1:p.Thr416Pro
NM_030632.3:c.1414A>C MANE Select	NP_085135.1:p.Thr472Pro