Canonical Allele Identifier: CA402190369

Gene: ASXL3

Linked Data

• dbSNP Id: rs756275562
• gnomAD v2: 18-31323995-C-A
• gnomAD v4: 18-33744031-C-A
• MyVariant Identifiers: chr18:g.31323995C>A (hg19) ; chr18:g.33744031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744031C>A , CM000680.2:g.33744031C>A	GRCh38
NC_000018.9:g.31323995C>A , CM000680.1:g.31323995C>A	GRCh37
NC_000018.8:g.29577993C>A	NCBI36
NG_055244.1:g.170455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4186C>A	ENSP00000513003.1:p.Leu1396Ile
ENST00000269197.12:c.4183C>A MANE Select	ENSP00000269197.4:p.Leu1395Ile
ENST00000681521.1:c.4063C>A	ENSP00000506037.1:p.Leu1355Ile
ENST00000269197.9:c.4183C>A	ENSP00000269197.4:p.Leu1395Ile
NM_030632.1:c.4183C>A	NP_085135.1:p.Leu1395Ile
XM_005258356.1:c.4186C>A	XP_005258413.1:p.Leu1396Ile
XM_011526205.1:c.4159C>A	XP_011524507.1:p.Leu1387Ile
XM_011526206.1:c.4105C>A	XP_011524508.1:p.Leu1369Ile
XM_011526207.1:c.4105C>A	XP_011524509.1:p.Leu1369Ile
XM_011526208.1:c.4066C>A	XP_011524510.1:p.Leu1356Ile
XM_011526209.1:c.4015C>A	XP_011524511.1:p.Leu1339Ile
XM_011526210.1:c.4015C>A	XP_011524512.1:p.Leu1339Ile
XM_011526211.1:c.4015C>A	XP_011524513.1:p.Leu1339Ile
XM_011526212.1:c.4015C>A	XP_011524514.1:p.Leu1339Ile
XM_011526213.1:c.4015C>A	XP_011524515.1:p.Leu1339Ile
XM_011526214.1:c.4015C>A	XP_011524516.1:p.Leu1339Ile
XM_011526215.1:c.1147C>A	XP_011524517.1:p.Leu383Ile
NM_030632.2:c.4183C>A	NP_085135.1:p.Leu1395Ile
XM_011526205.2:c.4159C>A	XP_011524507.1:p.Leu1387Ile
XM_011526206.2:c.4105C>A	XP_011524508.1:p.Leu1369Ile
XM_011526213.2:c.4015C>A	XP_011524515.1:p.Leu1339Ile
XM_017026012.1:c.4105C>A	XP_016881501.1:p.Leu1369Ile
XM_017026013.1:c.4015C>A	XP_016881502.1:p.Leu1339Ile
XM_017026014.2:c.4015C>A	XP_016881503.1:p.Leu1339Ile
XM_024451269.1:c.4015C>A	XP_024307037.1:p.Leu1339Ile
NM_030632.3:c.4183C>A MANE Select	NP_085135.1:p.Leu1395Ile