Canonical Allele Identifier: CA297786867

Gene: ASXL3

Linked Data

• dbSNP Id: rs901689314
• gnomAD v4: 18-33739045-T-G
• MyVariant Identifiers: chr18:g.31319009T>G (hg19) ; chr18:g.33739045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739045T>G , CM000680.2:g.33739045T>G	GRCh38
NC_000018.9:g.31319009T>G , CM000680.1:g.31319009T>G	GRCh37
NC_000018.8:g.29573007T>G	NCBI36
NG_055244.1:g.165469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1644T>G	ENSP00000513003.1:p.Thr548=
ENST00000269197.12:c.1641T>G MANE Select	ENSP00000269197.4:p.Thr547=
ENST00000592288.6:c.*765T>G	ENSP00000465053.1:n.*765T>G
ENST00000592541.6:c.*1300T>G	ENSP00000466655.2:n.*1300T>G
ENST00000593195.6:c.1853T>G	ENSP00000466073.1:n.1853T>G
ENST00000642541.1:c.1473T>G	ENSP00000493665.1:p.Thr491=
ENST00000681521.1:c.1521T>G	ENSP00000506037.1:p.Thr507=
ENST00000269197.9:c.1641T>G	ENSP00000269197.4:p.Thr547=
ENST00000592288.5:c.*765T>G	ENSP00000465053.1:n.*765T>G
NM_030632.1:c.1641T>G	NP_085135.1:p.Thr547=
XM_005258356.1:c.1644T>G	XP_005258413.1:p.Thr548=
XM_011526205.1:c.1617T>G	XP_011524507.1:p.Thr539=
XM_011526206.1:c.1563T>G	XP_011524508.1:p.Thr521=
XM_011526207.1:c.1563T>G	XP_011524509.1:p.Thr521=
XM_011526208.1:c.1524T>G	XP_011524510.1:p.Thr508=
XM_011526209.1:c.1473T>G	XP_011524511.1:p.Thr491=
XM_011526210.1:c.1473T>G	XP_011524512.1:p.Thr491=
XM_011526211.1:c.1473T>G	XP_011524513.1:p.Thr491=
XM_011526212.1:c.1473T>G	XP_011524514.1:p.Thr491=
XM_011526213.1:c.1473T>G	XP_011524515.1:p.Thr491=
XM_011526214.1:c.1473T>G	XP_011524516.1:p.Thr491=
NM_030632.2:c.1641T>G	NP_085135.1:p.Thr547=
XM_011526205.2:c.1617T>G	XP_011524507.1:p.Thr539=
XM_011526206.2:c.1563T>G	XP_011524508.1:p.Thr521=
XM_011526213.2:c.1473T>G	XP_011524515.1:p.Thr491=
XM_017026012.1:c.1563T>G	XP_016881501.1:p.Thr521=
XM_017026013.1:c.1473T>G	XP_016881502.1:p.Thr491=
XM_017026014.2:c.1473T>G	XP_016881503.1:p.Thr491=
XM_024451269.1:c.1473T>G	XP_024307037.1:p.Thr491=
NM_030632.3:c.1641T>G MANE Select	NP_085135.1:p.Thr547=