Canonical Allele Identifier: CA402190308
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744010G>T , CM000680.2:g.33744010G>T GRCh38
NC_000018.9:g.31323974G>T , CM000680.1:g.31323974G>T GRCh37
NC_000018.8:g.29577972G>T NCBI36
NG_055244.1:g.170434G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4165G>T ENSP00000513003.1:p.Gly1389Cys
ENST00000269197.12:c.4162G>T MANE Select ENSP00000269197.4:p.Gly1388Cys
ENST00000681521.1:c.4042G>T ENSP00000506037.1:p.Gly1348Cys
ENST00000269197.9:c.4162G>T ENSP00000269197.4:p.Gly1388Cys
NM_030632.1:c.4162G>T NP_085135.1:p.Gly1388Cys
XM_005258356.1:c.4165G>T XP_005258413.1:p.Gly1389Cys
XM_011526205.1:c.4138G>T XP_011524507.1:p.Gly1380Cys
XM_011526206.1:c.4084G>T XP_011524508.1:p.Gly1362Cys
XM_011526207.1:c.4084G>T XP_011524509.1:p.Gly1362Cys
XM_011526208.1:c.4045G>T XP_011524510.1:p.Gly1349Cys
XM_011526209.1:c.3994G>T XP_011524511.1:p.Gly1332Cys
XM_011526210.1:c.3994G>T XP_011524512.1:p.Gly1332Cys
XM_011526211.1:c.3994G>T XP_011524513.1:p.Gly1332Cys
XM_011526212.1:c.3994G>T XP_011524514.1:p.Gly1332Cys
XM_011526213.1:c.3994G>T XP_011524515.1:p.Gly1332Cys
XM_011526214.1:c.3994G>T XP_011524516.1:p.Gly1332Cys
XM_011526215.1:c.1126G>T XP_011524517.1:p.Gly376Cys
NM_030632.2:c.4162G>T NP_085135.1:p.Gly1388Cys
XM_011526205.2:c.4138G>T XP_011524507.1:p.Gly1380Cys
XM_011526206.2:c.4084G>T XP_011524508.1:p.Gly1362Cys
XM_011526213.2:c.3994G>T XP_011524515.1:p.Gly1332Cys
XM_017026012.1:c.4084G>T XP_016881501.1:p.Gly1362Cys
XM_017026013.1:c.3994G>T XP_016881502.1:p.Gly1332Cys
XM_017026014.2:c.3994G>T XP_016881503.1:p.Gly1332Cys
XM_024451269.1:c.3994G>T XP_024307037.1:p.Gly1332Cys
NM_030632.3:c.4162G>T MANE Select NP_085135.1:p.Gly1388Cys