Canonical Allele Identifier: CA402184180

Gene: ASXL3

Linked Data

• dbSNP Id: rs2145422942
• gnomAD v4: 18-33742913-C-T
• COSMIC: COSM4486522 ; COSM4486523
• MyVariant Identifiers: chr18:g.31322877C>T (hg19) ; chr18:g.33742913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33742913C>T , CM000680.2:g.33742913C>T	GRCh38
NC_000018.9:g.31322877C>T , CM000680.1:g.31322877C>T	GRCh37
NC_000018.8:g.29576875C>T	NCBI36
NG_055244.1:g.169337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3068C>T	ENSP00000513003.1:p.Pro1023Leu
ENST00000269197.12:c.3065C>T MANE Select	ENSP00000269197.4:p.Pro1022Leu
ENST00000592288.6:c.*2189C>T	ENSP00000465053.1:n.*2189C>T
ENST00000592541.6:c.*2724C>T	ENSP00000466655.2:n.*2724C>T
ENST00000593195.6:c.3277C>T	ENSP00000466073.1:n.3277C>T
ENST00000642541.1:c.2897C>T	ENSP00000493665.1:p.Pro966Leu
ENST00000681521.1:c.2945C>T	ENSP00000506037.1:p.Pro982Leu
ENST00000269197.9:c.3065C>T	ENSP00000269197.4:p.Pro1022Leu
ENST00000592288.5:c.*2189C>T	ENSP00000465053.1:n.*2189C>T
NM_030632.1:c.3065C>T	NP_085135.1:p.Pro1022Leu
XM_005258356.1:c.3068C>T	XP_005258413.1:p.Pro1023Leu
XM_011526205.1:c.3041C>T	XP_011524507.1:p.Pro1014Leu
XM_011526206.1:c.2987C>T	XP_011524508.1:p.Pro996Leu
XM_011526207.1:c.2987C>T	XP_011524509.1:p.Pro996Leu
XM_011526208.1:c.2948C>T	XP_011524510.1:p.Pro983Leu
XM_011526209.1:c.2897C>T	XP_011524511.1:p.Pro966Leu
XM_011526210.1:c.2897C>T	XP_011524512.1:p.Pro966Leu
XM_011526211.1:c.2897C>T	XP_011524513.1:p.Pro966Leu
XM_011526212.1:c.2897C>T	XP_011524514.1:p.Pro966Leu
XM_011526213.1:c.2897C>T	XP_011524515.1:p.Pro966Leu
XM_011526214.1:c.2897C>T	XP_011524516.1:p.Pro966Leu
XM_011526215.1:c.29C>T	XP_011524517.1:p.Pro10Leu
NM_030632.2:c.3065C>T	NP_085135.1:p.Pro1022Leu
XM_011526205.2:c.3041C>T	XP_011524507.1:p.Pro1014Leu
XM_011526206.2:c.2987C>T	XP_011524508.1:p.Pro996Leu
XM_011526213.2:c.2897C>T	XP_011524515.1:p.Pro966Leu
XM_017026012.1:c.2987C>T	XP_016881501.1:p.Pro996Leu
XM_017026013.1:c.2897C>T	XP_016881502.1:p.Pro966Leu
XM_017026014.2:c.2897C>T	XP_016881503.1:p.Pro966Leu
XM_024451269.1:c.2897C>T	XP_024307037.1:p.Pro966Leu
NM_030632.3:c.3065C>T MANE Select	NP_085135.1:p.Pro1022Leu