Canonical Allele Identifier: CA402191068

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33744347-T-G
• MyVariant Identifiers: chr18:g.31324311T>G (hg19) ; chr18:g.33744347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744347T>G , CM000680.2:g.33744347T>G	GRCh38
NC_000018.9:g.31324311T>G , CM000680.1:g.31324311T>G	GRCh37
NC_000018.8:g.29578309T>G	NCBI36
NG_055244.1:g.170771T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4502T>G	ENSP00000513003.1:p.Leu1501Arg
ENST00000269197.12:c.4499T>G MANE Select	ENSP00000269197.4:p.Leu1500Arg
ENST00000681521.1:c.4379T>G	ENSP00000506037.1:p.Leu1460Arg
ENST00000269197.9:c.4499T>G	ENSP00000269197.4:p.Leu1500Arg
NM_030632.1:c.4499T>G	NP_085135.1:p.Leu1500Arg
XM_005258356.1:c.4502T>G	XP_005258413.1:p.Leu1501Arg
XM_011526205.1:c.4475T>G	XP_011524507.1:p.Leu1492Arg
XM_011526206.1:c.4421T>G	XP_011524508.1:p.Leu1474Arg
XM_011526207.1:c.4421T>G	XP_011524509.1:p.Leu1474Arg
XM_011526208.1:c.4382T>G	XP_011524510.1:p.Leu1461Arg
XM_011526209.1:c.4331T>G	XP_011524511.1:p.Leu1444Arg
XM_011526210.1:c.4331T>G	XP_011524512.1:p.Leu1444Arg
XM_011526211.1:c.4331T>G	XP_011524513.1:p.Leu1444Arg
XM_011526212.1:c.4331T>G	XP_011524514.1:p.Leu1444Arg
XM_011526213.1:c.4331T>G	XP_011524515.1:p.Leu1444Arg
XM_011526214.1:c.4331T>G	XP_011524516.1:p.Leu1444Arg
XM_011526215.1:c.1463T>G	XP_011524517.1:p.Leu488Arg
NM_030632.2:c.4499T>G	NP_085135.1:p.Leu1500Arg
XM_011526205.2:c.4475T>G	XP_011524507.1:p.Leu1492Arg
XM_011526206.2:c.4421T>G	XP_011524508.1:p.Leu1474Arg
XM_011526213.2:c.4331T>G	XP_011524515.1:p.Leu1444Arg
XM_017026012.1:c.4421T>G	XP_016881501.1:p.Leu1474Arg
XM_017026013.1:c.4331T>G	XP_016881502.1:p.Leu1444Arg
XM_017026014.2:c.4331T>G	XP_016881503.1:p.Leu1444Arg
XM_024451269.1:c.4331T>G	XP_024307037.1:p.Leu1444Arg
NM_030632.3:c.4499T>G MANE Select	NP_085135.1:p.Leu1500Arg