Canonical Allele Identifier: CA402175340

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33738849-G-C
• MyVariant Identifiers: chr18:g.31318813G>C (hg19) ; chr18:g.33738849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738849G>C , CM000680.2:g.33738849G>C	GRCh38
NC_000018.9:g.31318813G>C , CM000680.1:g.31318813G>C	GRCh37
NC_000018.8:g.29572811G>C	NCBI36
NG_055244.1:g.165273G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1448G>C	ENSP00000513003.1:p.Ser483Thr
ENST00000269197.12:c.1445G>C MANE Select	ENSP00000269197.4:p.Ser482Thr
ENST00000592288.6:c.*569G>C	ENSP00000465053.1:n.*569G>C
ENST00000592541.6:c.*1104G>C	ENSP00000466655.2:n.*1104G>C
ENST00000593195.6:c.1657G>C	ENSP00000466073.1:n.1657G>C
ENST00000642541.1:c.1277G>C	ENSP00000493665.1:p.Ser426Thr
ENST00000681521.1:c.1325G>C	ENSP00000506037.1:p.Ser442Thr
ENST00000269197.9:c.1445G>C	ENSP00000269197.4:p.Ser482Thr
ENST00000592288.5:c.*569G>C	ENSP00000465053.1:n.*569G>C
NM_030632.1:c.1445G>C	NP_085135.1:p.Ser482Thr
XM_005258356.1:c.1448G>C	XP_005258413.1:p.Ser483Thr
XM_011526205.1:c.1421G>C	XP_011524507.1:p.Ser474Thr
XM_011526206.1:c.1367G>C	XP_011524508.1:p.Ser456Thr
XM_011526207.1:c.1367G>C	XP_011524509.1:p.Ser456Thr
XM_011526208.1:c.1328G>C	XP_011524510.1:p.Ser443Thr
XM_011526209.1:c.1277G>C	XP_011524511.1:p.Ser426Thr
XM_011526210.1:c.1277G>C	XP_011524512.1:p.Ser426Thr
XM_011526211.1:c.1277G>C	XP_011524513.1:p.Ser426Thr
XM_011526212.1:c.1277G>C	XP_011524514.1:p.Ser426Thr
XM_011526213.1:c.1277G>C	XP_011524515.1:p.Ser426Thr
XM_011526214.1:c.1277G>C	XP_011524516.1:p.Ser426Thr
NM_030632.2:c.1445G>C	NP_085135.1:p.Ser482Thr
XM_011526205.2:c.1421G>C	XP_011524507.1:p.Ser474Thr
XM_011526206.2:c.1367G>C	XP_011524508.1:p.Ser456Thr
XM_011526213.2:c.1277G>C	XP_011524515.1:p.Ser426Thr
XM_017026012.1:c.1367G>C	XP_016881501.1:p.Ser456Thr
XM_017026013.1:c.1277G>C	XP_016881502.1:p.Ser426Thr
XM_017026014.2:c.1277G>C	XP_016881503.1:p.Ser426Thr
XM_024451269.1:c.1277G>C	XP_024307037.1:p.Ser426Thr
NM_030632.3:c.1445G>C MANE Select	NP_085135.1:p.Ser482Thr