Canonical Allele Identifier: CA402176408
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739224G>C , CM000680.2:g.33739224G>C GRCh38
NC_000018.9:g.31319188G>C , CM000680.1:g.31319188G>C GRCh37
NC_000018.8:g.29573186G>C NCBI36
NG_055244.1:g.165648G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.1823G>C ENSP00000513003.1:p.Cys608Ser
ENST00000269197.12:c.1820G>C MANE Select ENSP00000269197.4:p.Cys607Ser
ENST00000592288.6:c.*944G>C ENSP00000465053.1:n.*944G>C
ENST00000592541.6:c.*1479G>C ENSP00000466655.2:n.*1479G>C
ENST00000593195.6:c.2032G>C ENSP00000466073.1:n.2032G>C
ENST00000642541.1:c.1652G>C ENSP00000493665.1:p.Cys551Ser
ENST00000681521.1:c.1700G>C ENSP00000506037.1:p.Cys567Ser
ENST00000269197.9:c.1820G>C ENSP00000269197.4:p.Cys607Ser
ENST00000592288.5:c.*944G>C ENSP00000465053.1:n.*944G>C
NM_030632.1:c.1820G>C NP_085135.1:p.Cys607Ser
XM_005258356.1:c.1823G>C XP_005258413.1:p.Cys608Ser
XM_011526205.1:c.1796G>C XP_011524507.1:p.Cys599Ser
XM_011526206.1:c.1742G>C XP_011524508.1:p.Cys581Ser
XM_011526207.1:c.1742G>C XP_011524509.1:p.Cys581Ser
XM_011526208.1:c.1703G>C XP_011524510.1:p.Cys568Ser
XM_011526209.1:c.1652G>C XP_011524511.1:p.Cys551Ser
XM_011526210.1:c.1652G>C XP_011524512.1:p.Cys551Ser
XM_011526211.1:c.1652G>C XP_011524513.1:p.Cys551Ser
XM_011526212.1:c.1652G>C XP_011524514.1:p.Cys551Ser
XM_011526213.1:c.1652G>C XP_011524515.1:p.Cys551Ser
XM_011526214.1:c.1652G>C XP_011524516.1:p.Cys551Ser
NM_030632.2:c.1820G>C NP_085135.1:p.Cys607Ser
XM_011526205.2:c.1796G>C XP_011524507.1:p.Cys599Ser
XM_011526206.2:c.1742G>C XP_011524508.1:p.Cys581Ser
XM_011526213.2:c.1652G>C XP_011524515.1:p.Cys551Ser
XM_017026012.1:c.1742G>C XP_016881501.1:p.Cys581Ser
XM_017026013.1:c.1652G>C XP_016881502.1:p.Cys551Ser
XM_017026014.2:c.1652G>C XP_016881503.1:p.Cys551Ser
XM_024451269.1:c.1652G>C XP_024307037.1:p.Cys551Ser
NM_030632.3:c.1820G>C MANE Select NP_085135.1:p.Cys607Ser