Canonical Allele Identifier: CA8933827

Gene: ASXL3

Linked Data

• dbSNP Id: rs772119586
• ExAC: 18:31319250 C / G
• gnomAD v2: 18-31319250-C-G
• gnomAD v4: 18-33739286-C-G
• MyVariant Identifiers: chr18:g.31319250C>G (hg19) ; chr18:g.33739286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739286C>G , CM000680.2:g.33739286C>G	GRCh38
NC_000018.9:g.31319250C>G , CM000680.1:g.31319250C>G	GRCh37
NC_000018.8:g.29573248C>G	NCBI36
NG_055244.1:g.165710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1885C>G	ENSP00000513003.1:p.Pro629Ala
ENST00000269197.12:c.1882C>G MANE Select	ENSP00000269197.4:p.Pro628Ala
ENST00000592288.6:c.*1006C>G	ENSP00000465053.1:n.*1006C>G
ENST00000592541.6:c.*1541C>G	ENSP00000466655.2:n.*1541C>G
ENST00000593195.6:c.2094C>G	ENSP00000466073.1:n.2094C>G
ENST00000642541.1:c.1714C>G	ENSP00000493665.1:p.Pro572Ala
ENST00000681521.1:c.1762C>G	ENSP00000506037.1:p.Pro588Ala
ENST00000269197.9:c.1882C>G	ENSP00000269197.4:p.Pro628Ala
ENST00000592288.5:c.*1006C>G	ENSP00000465053.1:n.*1006C>G
NM_030632.1:c.1882C>G	NP_085135.1:p.Pro628Ala
XM_005258356.1:c.1885C>G	XP_005258413.1:p.Pro629Ala
XM_011526205.1:c.1858C>G	XP_011524507.1:p.Pro620Ala
XM_011526206.1:c.1804C>G	XP_011524508.1:p.Pro602Ala
XM_011526207.1:c.1804C>G	XP_011524509.1:p.Pro602Ala
XM_011526208.1:c.1765C>G	XP_011524510.1:p.Pro589Ala
XM_011526209.1:c.1714C>G	XP_011524511.1:p.Pro572Ala
XM_011526210.1:c.1714C>G	XP_011524512.1:p.Pro572Ala
XM_011526211.1:c.1714C>G	XP_011524513.1:p.Pro572Ala
XM_011526212.1:c.1714C>G	XP_011524514.1:p.Pro572Ala
XM_011526213.1:c.1714C>G	XP_011524515.1:p.Pro572Ala
XM_011526214.1:c.1714C>G	XP_011524516.1:p.Pro572Ala
NM_030632.2:c.1882C>G	NP_085135.1:p.Pro628Ala
XM_011526205.2:c.1858C>G	XP_011524507.1:p.Pro620Ala
XM_011526206.2:c.1804C>G	XP_011524508.1:p.Pro602Ala
XM_011526213.2:c.1714C>G	XP_011524515.1:p.Pro572Ala
XM_017026012.1:c.1804C>G	XP_016881501.1:p.Pro602Ala
XM_017026013.1:c.1714C>G	XP_016881502.1:p.Pro572Ala
XM_017026014.2:c.1714C>G	XP_016881503.1:p.Pro572Ala
XM_024451269.1:c.1714C>G	XP_024307037.1:p.Pro572Ala
NM_030632.3:c.1882C>G MANE Select	NP_085135.1:p.Pro628Ala