Canonical Allele Identifier: CA402185394

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 426517
• ClinVar RCV Id: RCV000489967 ; RCV000509186 ; RCV001003997
• dbSNP Id: rs377619533
• MyVariant Identifiers: chr18:g.31323276C>A (hg19) ; chr18:g.33743312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743312C>A , CM000680.2:g.33743312C>A	GRCh38
NC_000018.9:g.31323276C>A , CM000680.1:g.31323276C>A	GRCh37
NC_000018.8:g.29577274C>A	NCBI36
NG_055244.1:g.169736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3467C>A	ENSP00000513003.1:p.Ser1156Ter
ENST00000269197.12:c.3464C>A MANE Select	ENSP00000269197.4:p.Ser1155Ter
ENST00000592288.6:c.*2588C>A	ENSP00000465053.1:n.*2588C>A
ENST00000592541.6:c.*3123C>A	ENSP00000466655.2:n.*3123C>A
ENST00000593195.6:c.3676C>A	ENSP00000466073.1:n.3676C>A
ENST00000642541.1:c.3296C>A	ENSP00000493665.1:p.Ser1099Ter
ENST00000681521.1:c.3344C>A	ENSP00000506037.1:p.Ser1115Ter
ENST00000269197.9:c.3464C>A	ENSP00000269197.4:p.Ser1155Ter
ENST00000592288.5:c.*2588C>A	ENSP00000465053.1:n.*2588C>A
NM_030632.1:c.3464C>A	NP_085135.1:p.Ser1155Ter
XM_005258356.1:c.3467C>A	XP_005258413.1:p.Ser1156Ter
XM_011526205.1:c.3440C>A	XP_011524507.1:p.Ser1147Ter
XM_011526206.1:c.3386C>A	XP_011524508.1:p.Ser1129Ter
XM_011526207.1:c.3386C>A	XP_011524509.1:p.Ser1129Ter
XM_011526208.1:c.3347C>A	XP_011524510.1:p.Ser1116Ter
XM_011526209.1:c.3296C>A	XP_011524511.1:p.Ser1099Ter
XM_011526210.1:c.3296C>A	XP_011524512.1:p.Ser1099Ter
XM_011526211.1:c.3296C>A	XP_011524513.1:p.Ser1099Ter
XM_011526212.1:c.3296C>A	XP_011524514.1:p.Ser1099Ter
XM_011526213.1:c.3296C>A	XP_011524515.1:p.Ser1099Ter
XM_011526214.1:c.3296C>A	XP_011524516.1:p.Ser1099Ter
XM_011526215.1:c.428C>A	XP_011524517.1:p.Ser143Ter
NM_030632.2:c.3464C>A	NP_085135.1:p.Ser1155Ter
XM_011526205.2:c.3440C>A	XP_011524507.1:p.Ser1147Ter
XM_011526206.2:c.3386C>A	XP_011524508.1:p.Ser1129Ter
XM_011526213.2:c.3296C>A	XP_011524515.1:p.Ser1099Ter
XM_017026012.1:c.3386C>A	XP_016881501.1:p.Ser1129Ter
XM_017026013.1:c.3296C>A	XP_016881502.1:p.Ser1099Ter
XM_017026014.2:c.3296C>A	XP_016881503.1:p.Ser1099Ter
XM_024451269.1:c.3296C>A	XP_024307037.1:p.Ser1099Ter
NM_030632.3:c.3464C>A MANE Select	NP_085135.1:p.Ser1155Ter