Canonical Allele Identifier: CA402191715
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744544C>A , CM000680.2:g.33744544C>A GRCh38
NC_000018.9:g.31324508C>A , CM000680.1:g.31324508C>A GRCh37
NC_000018.8:g.29578506C>A NCBI36
NG_055244.1:g.170968C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4699C>A ENSP00000513003.1:p.Pro1567Thr
ENST00000269197.12:c.4696C>A MANE Select ENSP00000269197.4:p.Pro1566Thr
ENST00000681521.1:c.4576C>A ENSP00000506037.1:p.Pro1526Thr
ENST00000269197.9:c.4696C>A ENSP00000269197.4:p.Pro1566Thr
NM_030632.1:c.4696C>A NP_085135.1:p.Pro1566Thr
XM_005258356.1:c.4699C>A XP_005258413.1:p.Pro1567Thr
XM_011526205.1:c.4672C>A XP_011524507.1:p.Pro1558Thr
XM_011526206.1:c.4618C>A XP_011524508.1:p.Pro1540Thr
XM_011526207.1:c.4618C>A XP_011524509.1:p.Pro1540Thr
XM_011526208.1:c.4579C>A XP_011524510.1:p.Pro1527Thr
XM_011526209.1:c.4528C>A XP_011524511.1:p.Pro1510Thr
XM_011526210.1:c.4528C>A XP_011524512.1:p.Pro1510Thr
XM_011526211.1:c.4528C>A XP_011524513.1:p.Pro1510Thr
XM_011526212.1:c.4528C>A XP_011524514.1:p.Pro1510Thr
XM_011526213.1:c.4528C>A XP_011524515.1:p.Pro1510Thr
XM_011526214.1:c.4528C>A XP_011524516.1:p.Pro1510Thr
XM_011526215.1:c.1660C>A XP_011524517.1:p.Pro554Thr
NM_030632.2:c.4696C>A NP_085135.1:p.Pro1566Thr
XM_011526205.2:c.4672C>A XP_011524507.1:p.Pro1558Thr
XM_011526206.2:c.4618C>A XP_011524508.1:p.Pro1540Thr
XM_011526213.2:c.4528C>A XP_011524515.1:p.Pro1510Thr
XM_017026012.1:c.4618C>A XP_016881501.1:p.Pro1540Thr
XM_017026013.1:c.4528C>A XP_016881502.1:p.Pro1510Thr
XM_017026014.2:c.4528C>A XP_016881503.1:p.Pro1510Thr
XM_024451269.1:c.4528C>A XP_024307037.1:p.Pro1510Thr
NM_030632.3:c.4696C>A MANE Select NP_085135.1:p.Pro1566Thr