Canonical Allele Identifier: CA503768814

Gene: ASXL3

Linked Data

• dbSNP Id: rs1469790465
• MyVariant Identifiers: chr18:g.31319204C>T (hg19) ; chr18:g.33739240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739240C>T , CM000680.2:g.33739240C>T	GRCh38
NC_000018.9:g.31319204C>T , CM000680.1:g.31319204C>T	GRCh37
NC_000018.8:g.29573202C>T	NCBI36
NG_055244.1:g.165664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1839C>T	ENSP00000513003.1:p.Ser613=
ENST00000269197.12:c.1836C>T MANE Select	ENSP00000269197.4:p.Ser612=
ENST00000592288.6:c.*960C>T	ENSP00000465053.1:n.*960C>T
ENST00000592541.6:c.*1495C>T	ENSP00000466655.2:n.*1495C>T
ENST00000593195.6:c.2048C>T	ENSP00000466073.1:n.2048C>T
ENST00000642541.1:c.1668C>T	ENSP00000493665.1:p.Ser556=
ENST00000681521.1:c.1716C>T	ENSP00000506037.1:p.Ser572=
ENST00000269197.9:c.1836C>T	ENSP00000269197.4:p.Ser612=
ENST00000592288.5:c.*960C>T	ENSP00000465053.1:n.*960C>T
NM_030632.1:c.1836C>T	NP_085135.1:p.Ser612=
XM_005258356.1:c.1839C>T	XP_005258413.1:p.Ser613=
XM_011526205.1:c.1812C>T	XP_011524507.1:p.Ser604=
XM_011526206.1:c.1758C>T	XP_011524508.1:p.Ser586=
XM_011526207.1:c.1758C>T	XP_011524509.1:p.Ser586=
XM_011526208.1:c.1719C>T	XP_011524510.1:p.Ser573=
XM_011526209.1:c.1668C>T	XP_011524511.1:p.Ser556=
XM_011526210.1:c.1668C>T	XP_011524512.1:p.Ser556=
XM_011526211.1:c.1668C>T	XP_011524513.1:p.Ser556=
XM_011526212.1:c.1668C>T	XP_011524514.1:p.Ser556=
XM_011526213.1:c.1668C>T	XP_011524515.1:p.Ser556=
XM_011526214.1:c.1668C>T	XP_011524516.1:p.Ser556=
NM_030632.2:c.1836C>T	NP_085135.1:p.Ser612=
XM_011526205.2:c.1812C>T	XP_011524507.1:p.Ser604=
XM_011526206.2:c.1758C>T	XP_011524508.1:p.Ser586=
XM_011526213.2:c.1668C>T	XP_011524515.1:p.Ser556=
XM_017026012.1:c.1758C>T	XP_016881501.1:p.Ser586=
XM_017026013.1:c.1668C>T	XP_016881502.1:p.Ser556=
XM_017026014.2:c.1668C>T	XP_016881503.1:p.Ser556=
XM_024451269.1:c.1668C>T	XP_024307037.1:p.Ser556=
NM_030632.3:c.1836C>T MANE Select	NP_085135.1:p.Ser612=