Canonical Allele Identifier: CA503769489

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33743022-G-A
• MyVariant Identifiers: chr18:g.31322986G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743022G>A , CM000680.2:g.33743022G>A	GRCh38
NC_000018.9:g.31322986G>A , CM000680.1:g.31322986G>A	GRCh37
NC_000018.8:g.29576984G>A	NCBI36
NG_055244.1:g.169446G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3177G>A	ENSP00000513003.1:p.Lys1059=
ENST00000269197.12:c.3174G>A MANE Select	ENSP00000269197.4:p.Lys1058=
ENST00000592288.6:c.*2298G>A	ENSP00000465053.1:n.*2298G>A
ENST00000592541.6:c.*2833G>A	ENSP00000466655.2:n.*2833G>A
ENST00000593195.6:c.3386G>A	ENSP00000466073.1:n.3386G>A
ENST00000642541.1:c.3006G>A	ENSP00000493665.1:p.Lys1002=
ENST00000681521.1:c.3054G>A	ENSP00000506037.1:p.Lys1018=
ENST00000269197.9:c.3174G>A	ENSP00000269197.4:p.Lys1058=
ENST00000592288.5:c.*2298G>A	ENSP00000465053.1:n.*2298G>A
NM_030632.1:c.3174G>A	NP_085135.1:p.Lys1058=
XM_005258356.1:c.3177G>A	XP_005258413.1:p.Lys1059=
XM_011526205.1:c.3150G>A	XP_011524507.1:p.Lys1050=
XM_011526206.1:c.3096G>A	XP_011524508.1:p.Lys1032=
XM_011526207.1:c.3096G>A	XP_011524509.1:p.Lys1032=
XM_011526208.1:c.3057G>A	XP_011524510.1:p.Lys1019=
XM_011526209.1:c.3006G>A	XP_011524511.1:p.Lys1002=
XM_011526210.1:c.3006G>A	XP_011524512.1:p.Lys1002=
XM_011526211.1:c.3006G>A	XP_011524513.1:p.Lys1002=
XM_011526212.1:c.3006G>A	XP_011524514.1:p.Lys1002=
XM_011526213.1:c.3006G>A	XP_011524515.1:p.Lys1002=
XM_011526214.1:c.3006G>A	XP_011524516.1:p.Lys1002=
XM_011526215.1:c.138G>A	XP_011524517.1:p.Lys46=
NM_030632.2:c.3174G>A	NP_085135.1:p.Lys1058=
XM_011526205.2:c.3150G>A	XP_011524507.1:p.Lys1050=
XM_011526206.2:c.3096G>A	XP_011524508.1:p.Lys1032=
XM_011526213.2:c.3006G>A	XP_011524515.1:p.Lys1002=
XM_017026012.1:c.3096G>A	XP_016881501.1:p.Lys1032=
XM_017026013.1:c.3006G>A	XP_016881502.1:p.Lys1002=
XM_017026014.2:c.3006G>A	XP_016881503.1:p.Lys1002=
XM_024451269.1:c.3006G>A	XP_024307037.1:p.Lys1002=
NM_030632.3:c.3174G>A MANE Select	NP_085135.1:p.Lys1058=