Canonical Allele Identifier: CA402184528

Gene: ASXL3

Linked Data

• COSMIC: COSM4542166 ; COSM4542167
• MyVariant Identifiers: chr18:g.31322948G>C (hg19) ; chr18:g.33742984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33742984G>C , CM000680.2:g.33742984G>C	GRCh38
NC_000018.9:g.31322948G>C , CM000680.1:g.31322948G>C	GRCh37
NC_000018.8:g.29576946G>C	NCBI36
NG_055244.1:g.169408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3139G>C	ENSP00000513003.1:p.Gly1047Arg
ENST00000269197.12:c.3136G>C MANE Select	ENSP00000269197.4:p.Gly1046Arg
ENST00000592288.6:c.*2260G>C	ENSP00000465053.1:n.*2260G>C
ENST00000592541.6:c.*2795G>C	ENSP00000466655.2:n.*2795G>C
ENST00000593195.6:c.3348G>C	ENSP00000466073.1:n.3348G>C
ENST00000642541.1:c.2968G>C	ENSP00000493665.1:p.Gly990Arg
ENST00000681521.1:c.3016G>C	ENSP00000506037.1:p.Gly1006Arg
ENST00000269197.9:c.3136G>C	ENSP00000269197.4:p.Gly1046Arg
ENST00000592288.5:c.*2260G>C	ENSP00000465053.1:n.*2260G>C
NM_030632.1:c.3136G>C	NP_085135.1:p.Gly1046Arg
XM_005258356.1:c.3139G>C	XP_005258413.1:p.Gly1047Arg
XM_011526205.1:c.3112G>C	XP_011524507.1:p.Gly1038Arg
XM_011526206.1:c.3058G>C	XP_011524508.1:p.Gly1020Arg
XM_011526207.1:c.3058G>C	XP_011524509.1:p.Gly1020Arg
XM_011526208.1:c.3019G>C	XP_011524510.1:p.Gly1007Arg
XM_011526209.1:c.2968G>C	XP_011524511.1:p.Gly990Arg
XM_011526210.1:c.2968G>C	XP_011524512.1:p.Gly990Arg
XM_011526211.1:c.2968G>C	XP_011524513.1:p.Gly990Arg
XM_011526212.1:c.2968G>C	XP_011524514.1:p.Gly990Arg
XM_011526213.1:c.2968G>C	XP_011524515.1:p.Gly990Arg
XM_011526214.1:c.2968G>C	XP_011524516.1:p.Gly990Arg
XM_011526215.1:c.100G>C	XP_011524517.1:p.Gly34Arg
NM_030632.2:c.3136G>C	NP_085135.1:p.Gly1046Arg
XM_011526205.2:c.3112G>C	XP_011524507.1:p.Gly1038Arg
XM_011526206.2:c.3058G>C	XP_011524508.1:p.Gly1020Arg
XM_011526213.2:c.2968G>C	XP_011524515.1:p.Gly990Arg
XM_017026012.1:c.3058G>C	XP_016881501.1:p.Gly1020Arg
XM_017026013.1:c.2968G>C	XP_016881502.1:p.Gly990Arg
XM_017026014.2:c.2968G>C	XP_016881503.1:p.Gly990Arg
XM_024451269.1:c.2968G>C	XP_024307037.1:p.Gly990Arg
NM_030632.3:c.3136G>C MANE Select	NP_085135.1:p.Gly1046Arg