Canonical Allele Identifier: CA402184392

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 429913
• ClinVar RCV Id: RCV000493532 ; RCV000509007
• dbSNP Id: rs1131691668
• gnomAD v4: 18-33742954-C-T
• COSMIC: COSM4825536 ; COSM4825537
• MyVariant Identifiers: chr18:g.31322918C>T (hg19) ; chr18:g.33742954C>T (hg38)
• PubMed: PMID:25363760

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33742954C>T , CM000680.2:g.33742954C>T	GRCh38
NC_000018.9:g.31322918C>T , CM000680.1:g.31322918C>T	GRCh37
NC_000018.8:g.29576916C>T	NCBI36
NG_055244.1:g.169378C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3109C>T	ENSP00000513003.1:p.Arg1037Ter
ENST00000269197.12:c.3106C>T MANE Select	ENSP00000269197.4:p.Arg1036Ter
ENST00000592288.6:c.*2230C>T	ENSP00000465053.1:n.*2230C>T
ENST00000592541.6:c.*2765C>T	ENSP00000466655.2:n.*2765C>T
ENST00000593195.6:c.3318C>T	ENSP00000466073.1:n.3318C>T
ENST00000642541.1:c.2938C>T	ENSP00000493665.1:p.Arg980Ter
ENST00000681521.1:c.2986C>T	ENSP00000506037.1:p.Arg996Ter
ENST00000269197.9:c.3106C>T	ENSP00000269197.4:p.Arg1036Ter
ENST00000592288.5:c.*2230C>T	ENSP00000465053.1:n.*2230C>T
NM_030632.1:c.3106C>T	NP_085135.1:p.Arg1036Ter
XM_005258356.1:c.3109C>T	XP_005258413.1:p.Arg1037Ter
XM_011526205.1:c.3082C>T	XP_011524507.1:p.Arg1028Ter
XM_011526206.1:c.3028C>T	XP_011524508.1:p.Arg1010Ter
XM_011526207.1:c.3028C>T	XP_011524509.1:p.Arg1010Ter
XM_011526208.1:c.2989C>T	XP_011524510.1:p.Arg997Ter
XM_011526209.1:c.2938C>T	XP_011524511.1:p.Arg980Ter
XM_011526210.1:c.2938C>T	XP_011524512.1:p.Arg980Ter
XM_011526211.1:c.2938C>T	XP_011524513.1:p.Arg980Ter
XM_011526212.1:c.2938C>T	XP_011524514.1:p.Arg980Ter
XM_011526213.1:c.2938C>T	XP_011524515.1:p.Arg980Ter
XM_011526214.1:c.2938C>T	XP_011524516.1:p.Arg980Ter
XM_011526215.1:c.70C>T	XP_011524517.1:p.Arg24Ter
NM_030632.2:c.3106C>T	NP_085135.1:p.Arg1036Ter
XM_011526205.2:c.3082C>T	XP_011524507.1:p.Arg1028Ter
XM_011526206.2:c.3028C>T	XP_011524508.1:p.Arg1010Ter
XM_011526213.2:c.2938C>T	XP_011524515.1:p.Arg980Ter
XM_017026012.1:c.3028C>T	XP_016881501.1:p.Arg1010Ter
XM_017026013.1:c.2938C>T	XP_016881502.1:p.Arg980Ter
XM_017026014.2:c.2938C>T	XP_016881503.1:p.Arg980Ter
XM_024451269.1:c.2938C>T	XP_024307037.1:p.Arg980Ter
NM_030632.3:c.3106C>T MANE Select	NP_085135.1:p.Arg1036Ter