Canonical Allele Identifier: CA8933805

Gene: ASXL3

Linked Data

• dbSNP Id: rs377377828
• ExAC: 18:31319098 C / T
• gnomAD v2: 18-31319098-C-T
• gnomAD v4: 18-33739134-C-T
• MyVariant Identifiers: chr18:g.31319098C>T (hg19) ; chr18:g.33739134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739134C>T , CM000680.2:g.33739134C>T	GRCh38
NC_000018.9:g.31319098C>T , CM000680.1:g.31319098C>T	GRCh37
NC_000018.8:g.29573096C>T	NCBI36
NG_055244.1:g.165558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1733C>T	ENSP00000513003.1:p.Ser578Phe
ENST00000269197.12:c.1730C>T MANE Select	ENSP00000269197.4:p.Ser577Phe
ENST00000592288.6:c.*854C>T	ENSP00000465053.1:n.*854C>T
ENST00000592541.6:c.*1389C>T	ENSP00000466655.2:n.*1389C>T
ENST00000593195.6:c.1942C>T	ENSP00000466073.1:n.1942C>T
ENST00000642541.1:c.1562C>T	ENSP00000493665.1:p.Ser521Phe
ENST00000681521.1:c.1610C>T	ENSP00000506037.1:p.Ser537Phe
ENST00000269197.9:c.1730C>T	ENSP00000269197.4:p.Ser577Phe
ENST00000592288.5:c.*854C>T	ENSP00000465053.1:n.*854C>T
NM_030632.1:c.1730C>T	NP_085135.1:p.Ser577Phe
XM_005258356.1:c.1733C>T	XP_005258413.1:p.Ser578Phe
XM_011526205.1:c.1706C>T	XP_011524507.1:p.Ser569Phe
XM_011526206.1:c.1652C>T	XP_011524508.1:p.Ser551Phe
XM_011526207.1:c.1652C>T	XP_011524509.1:p.Ser551Phe
XM_011526208.1:c.1613C>T	XP_011524510.1:p.Ser538Phe
XM_011526209.1:c.1562C>T	XP_011524511.1:p.Ser521Phe
XM_011526210.1:c.1562C>T	XP_011524512.1:p.Ser521Phe
XM_011526211.1:c.1562C>T	XP_011524513.1:p.Ser521Phe
XM_011526212.1:c.1562C>T	XP_011524514.1:p.Ser521Phe
XM_011526213.1:c.1562C>T	XP_011524515.1:p.Ser521Phe
XM_011526214.1:c.1562C>T	XP_011524516.1:p.Ser521Phe
NM_030632.2:c.1730C>T	NP_085135.1:p.Ser577Phe
XM_011526205.2:c.1706C>T	XP_011524507.1:p.Ser569Phe
XM_011526206.2:c.1652C>T	XP_011524508.1:p.Ser551Phe
XM_011526213.2:c.1562C>T	XP_011524515.1:p.Ser521Phe
XM_017026012.1:c.1652C>T	XP_016881501.1:p.Ser551Phe
XM_017026013.1:c.1562C>T	XP_016881502.1:p.Ser521Phe
XM_017026014.2:c.1562C>T	XP_016881503.1:p.Ser521Phe
XM_024451269.1:c.1562C>T	XP_024307037.1:p.Ser521Phe
NM_030632.3:c.1730C>T MANE Select	NP_085135.1:p.Ser577Phe