Canonical Allele Identifier: CA503768683

Gene: ASXL3

Linked Data

• dbSNP Id: rs1346524570
• gnomAD v2: 18-31318961-A-G
• gnomAD v4: 18-33738997-A-G
• COSMIC: COSM6242418 ; COSM6242419
• MyVariant Identifiers: chr18:g.31318961A>G (hg19) ; chr18:g.33738997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738997A>G , CM000680.2:g.33738997A>G	GRCh38
NC_000018.9:g.31318961A>G , CM000680.1:g.31318961A>G	GRCh37
NC_000018.8:g.29572959A>G	NCBI36
NG_055244.1:g.165421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1596A>G	ENSP00000513003.1:p.Thr532=
ENST00000269197.12:c.1593A>G MANE Select	ENSP00000269197.4:p.Thr531=
ENST00000592288.6:c.*717A>G	ENSP00000465053.1:n.*717A>G
ENST00000592541.6:c.*1252A>G	ENSP00000466655.2:n.*1252A>G
ENST00000593195.6:c.1805A>G	ENSP00000466073.1:n.1805A>G
ENST00000642541.1:c.1425A>G	ENSP00000493665.1:p.Thr475=
ENST00000681521.1:c.1473A>G	ENSP00000506037.1:p.Thr491=
ENST00000269197.9:c.1593A>G	ENSP00000269197.4:p.Thr531=
ENST00000592288.5:c.*717A>G	ENSP00000465053.1:n.*717A>G
NM_030632.1:c.1593A>G	NP_085135.1:p.Thr531=
XM_005258356.1:c.1596A>G	XP_005258413.1:p.Thr532=
XM_011526205.1:c.1569A>G	XP_011524507.1:p.Thr523=
XM_011526206.1:c.1515A>G	XP_011524508.1:p.Thr505=
XM_011526207.1:c.1515A>G	XP_011524509.1:p.Thr505=
XM_011526208.1:c.1476A>G	XP_011524510.1:p.Thr492=
XM_011526209.1:c.1425A>G	XP_011524511.1:p.Thr475=
XM_011526210.1:c.1425A>G	XP_011524512.1:p.Thr475=
XM_011526211.1:c.1425A>G	XP_011524513.1:p.Thr475=
XM_011526212.1:c.1425A>G	XP_011524514.1:p.Thr475=
XM_011526213.1:c.1425A>G	XP_011524515.1:p.Thr475=
XM_011526214.1:c.1425A>G	XP_011524516.1:p.Thr475=
NM_030632.2:c.1593A>G	NP_085135.1:p.Thr531=
XM_011526205.2:c.1569A>G	XP_011524507.1:p.Thr523=
XM_011526206.2:c.1515A>G	XP_011524508.1:p.Thr505=
XM_011526213.2:c.1425A>G	XP_011524515.1:p.Thr475=
XM_017026012.1:c.1515A>G	XP_016881501.1:p.Thr505=
XM_017026013.1:c.1425A>G	XP_016881502.1:p.Thr475=
XM_017026014.2:c.1425A>G	XP_016881503.1:p.Thr475=
XM_024451269.1:c.1425A>G	XP_024307037.1:p.Thr475=
NM_030632.3:c.1593A>G MANE Select	NP_085135.1:p.Thr531=