Canonical Allele Identifier: CA402184620
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33743003G>C , CM000680.2:g.33743003G>C GRCh38
NC_000018.9:g.31322967G>C , CM000680.1:g.31322967G>C GRCh37
NC_000018.8:g.29576965G>C NCBI36
NG_055244.1:g.169427G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.3158G>C ENSP00000513003.1:p.Arg1053Thr
ENST00000269197.12:c.3155G>C MANE Select ENSP00000269197.4:p.Arg1052Thr
ENST00000592288.6:c.*2279G>C ENSP00000465053.1:n.*2279G>C
ENST00000592541.6:c.*2814G>C ENSP00000466655.2:n.*2814G>C
ENST00000593195.6:c.3367G>C ENSP00000466073.1:n.3367G>C
ENST00000642541.1:c.2987G>C ENSP00000493665.1:p.Arg996Thr
ENST00000681521.1:c.3035G>C ENSP00000506037.1:p.Arg1012Thr
ENST00000269197.9:c.3155G>C ENSP00000269197.4:p.Arg1052Thr
ENST00000592288.5:c.*2279G>C ENSP00000465053.1:n.*2279G>C
NM_030632.1:c.3155G>C NP_085135.1:p.Arg1052Thr
XM_005258356.1:c.3158G>C XP_005258413.1:p.Arg1053Thr
XM_011526205.1:c.3131G>C XP_011524507.1:p.Arg1044Thr
XM_011526206.1:c.3077G>C XP_011524508.1:p.Arg1026Thr
XM_011526207.1:c.3077G>C XP_011524509.1:p.Arg1026Thr
XM_011526208.1:c.3038G>C XP_011524510.1:p.Arg1013Thr
XM_011526209.1:c.2987G>C XP_011524511.1:p.Arg996Thr
XM_011526210.1:c.2987G>C XP_011524512.1:p.Arg996Thr
XM_011526211.1:c.2987G>C XP_011524513.1:p.Arg996Thr
XM_011526212.1:c.2987G>C XP_011524514.1:p.Arg996Thr
XM_011526213.1:c.2987G>C XP_011524515.1:p.Arg996Thr
XM_011526214.1:c.2987G>C XP_011524516.1:p.Arg996Thr
XM_011526215.1:c.119G>C XP_011524517.1:p.Arg40Thr
NM_030632.2:c.3155G>C NP_085135.1:p.Arg1052Thr
XM_011526205.2:c.3131G>C XP_011524507.1:p.Arg1044Thr
XM_011526206.2:c.3077G>C XP_011524508.1:p.Arg1026Thr
XM_011526213.2:c.2987G>C XP_011524515.1:p.Arg996Thr
XM_017026012.1:c.3077G>C XP_016881501.1:p.Arg1026Thr
XM_017026013.1:c.2987G>C XP_016881502.1:p.Arg996Thr
XM_017026014.2:c.2987G>C XP_016881503.1:p.Arg996Thr
XM_024451269.1:c.2987G>C XP_024307037.1:p.Arg996Thr
NM_030632.3:c.3155G>C MANE Select NP_085135.1:p.Arg1052Thr