Canonical Allele Identifier: CA402175778

Gene: ASXL3

Linked Data

• dbSNP Id: rs765461709
• MyVariant Identifiers: chr18:g.31318898A>C (hg19) ; chr18:g.33738934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738934A>C , CM000680.2:g.33738934A>C	GRCh38
NC_000018.9:g.31318898A>C , CM000680.1:g.31318898A>C	GRCh37
NC_000018.8:g.29572896A>C	NCBI36
NG_055244.1:g.165358A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1533A>C	ENSP00000513003.1:p.Glu511Asp
ENST00000269197.12:c.1530A>C MANE Select	ENSP00000269197.4:p.Glu510Asp
ENST00000592288.6:c.*654A>C	ENSP00000465053.1:n.*654A>C
ENST00000592541.6:c.*1189A>C	ENSP00000466655.2:n.*1189A>C
ENST00000593195.6:c.1742A>C	ENSP00000466073.1:n.1742A>C
ENST00000642541.1:c.1362A>C	ENSP00000493665.1:p.Glu454Asp
ENST00000681521.1:c.1410A>C	ENSP00000506037.1:p.Glu470Asp
ENST00000269197.9:c.1530A>C	ENSP00000269197.4:p.Glu510Asp
ENST00000592288.5:c.*654A>C	ENSP00000465053.1:n.*654A>C
NM_030632.1:c.1530A>C	NP_085135.1:p.Glu510Asp
XM_005258356.1:c.1533A>C	XP_005258413.1:p.Glu511Asp
XM_011526205.1:c.1506A>C	XP_011524507.1:p.Glu502Asp
XM_011526206.1:c.1452A>C	XP_011524508.1:p.Glu484Asp
XM_011526207.1:c.1452A>C	XP_011524509.1:p.Glu484Asp
XM_011526208.1:c.1413A>C	XP_011524510.1:p.Glu471Asp
XM_011526209.1:c.1362A>C	XP_011524511.1:p.Glu454Asp
XM_011526210.1:c.1362A>C	XP_011524512.1:p.Glu454Asp
XM_011526211.1:c.1362A>C	XP_011524513.1:p.Glu454Asp
XM_011526212.1:c.1362A>C	XP_011524514.1:p.Glu454Asp
XM_011526213.1:c.1362A>C	XP_011524515.1:p.Glu454Asp
XM_011526214.1:c.1362A>C	XP_011524516.1:p.Glu454Asp
NM_030632.2:c.1530A>C	NP_085135.1:p.Glu510Asp
XM_011526205.2:c.1506A>C	XP_011524507.1:p.Glu502Asp
XM_011526206.2:c.1452A>C	XP_011524508.1:p.Glu484Asp
XM_011526213.2:c.1362A>C	XP_011524515.1:p.Glu454Asp
XM_017026012.1:c.1452A>C	XP_016881501.1:p.Glu484Asp
XM_017026013.1:c.1362A>C	XP_016881502.1:p.Glu454Asp
XM_017026014.2:c.1362A>C	XP_016881503.1:p.Glu454Asp
XM_024451269.1:c.1362A>C	XP_024307037.1:p.Glu454Asp
NM_030632.3:c.1530A>C MANE Select	NP_085135.1:p.Glu510Asp