Canonical Allele Identifier: CA402184710

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33743020-A-C
• MyVariant Identifiers: chr18:g.31322984A>C (hg19) ; chr18:g.33743020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743020A>C , CM000680.2:g.33743020A>C	GRCh38
NC_000018.9:g.31322984A>C , CM000680.1:g.31322984A>C	GRCh37
NC_000018.8:g.29576982A>C	NCBI36
NG_055244.1:g.169444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3175A>C	ENSP00000513003.1:p.Lys1059Gln
ENST00000269197.12:c.3172A>C MANE Select	ENSP00000269197.4:p.Lys1058Gln
ENST00000592288.6:c.*2296A>C	ENSP00000465053.1:n.*2296A>C
ENST00000592541.6:c.*2831A>C	ENSP00000466655.2:n.*2831A>C
ENST00000593195.6:c.3384A>C	ENSP00000466073.1:n.3384A>C
ENST00000642541.1:c.3004A>C	ENSP00000493665.1:p.Lys1002Gln
ENST00000681521.1:c.3052A>C	ENSP00000506037.1:p.Lys1018Gln
ENST00000269197.9:c.3172A>C	ENSP00000269197.4:p.Lys1058Gln
ENST00000592288.5:c.*2296A>C	ENSP00000465053.1:n.*2296A>C
NM_030632.1:c.3172A>C	NP_085135.1:p.Lys1058Gln
XM_005258356.1:c.3175A>C	XP_005258413.1:p.Lys1059Gln
XM_011526205.1:c.3148A>C	XP_011524507.1:p.Lys1050Gln
XM_011526206.1:c.3094A>C	XP_011524508.1:p.Lys1032Gln
XM_011526207.1:c.3094A>C	XP_011524509.1:p.Lys1032Gln
XM_011526208.1:c.3055A>C	XP_011524510.1:p.Lys1019Gln
XM_011526209.1:c.3004A>C	XP_011524511.1:p.Lys1002Gln
XM_011526210.1:c.3004A>C	XP_011524512.1:p.Lys1002Gln
XM_011526211.1:c.3004A>C	XP_011524513.1:p.Lys1002Gln
XM_011526212.1:c.3004A>C	XP_011524514.1:p.Lys1002Gln
XM_011526213.1:c.3004A>C	XP_011524515.1:p.Lys1002Gln
XM_011526214.1:c.3004A>C	XP_011524516.1:p.Lys1002Gln
XM_011526215.1:c.136A>C	XP_011524517.1:p.Lys46Gln
NM_030632.2:c.3172A>C	NP_085135.1:p.Lys1058Gln
XM_011526205.2:c.3148A>C	XP_011524507.1:p.Lys1050Gln
XM_011526206.2:c.3094A>C	XP_011524508.1:p.Lys1032Gln
XM_011526213.2:c.3004A>C	XP_011524515.1:p.Lys1002Gln
XM_017026012.1:c.3094A>C	XP_016881501.1:p.Lys1032Gln
XM_017026013.1:c.3004A>C	XP_016881502.1:p.Lys1002Gln
XM_017026014.2:c.3004A>C	XP_016881503.1:p.Lys1002Gln
XM_024451269.1:c.3004A>C	XP_024307037.1:p.Lys1002Gln
NM_030632.3:c.3172A>C MANE Select	NP_085135.1:p.Lys1058Gln