Canonical Allele Identifier: CA402177044
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739400A>T , CM000680.2:g.33739400A>T GRCh38
NC_000018.9:g.31319364A>T , CM000680.1:g.31319364A>T GRCh37
NC_000018.8:g.29573362A>T NCBI36
NG_055244.1:g.165824A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.1999A>T ENSP00000513003.1:p.Asn667Tyr
ENST00000269197.12:c.1996A>T MANE Select ENSP00000269197.4:p.Asn666Tyr
ENST00000592288.6:c.*1120A>T ENSP00000465053.1:n.*1120A>T
ENST00000592541.6:c.*1655A>T ENSP00000466655.2:n.*1655A>T
ENST00000593195.6:c.2208A>T ENSP00000466073.1:n.2208A>T
ENST00000642541.1:c.1828A>T ENSP00000493665.1:p.Asn610Tyr
ENST00000681521.1:c.1876A>T ENSP00000506037.1:p.Asn626Tyr
ENST00000269197.9:c.1996A>T ENSP00000269197.4:p.Asn666Tyr
ENST00000592288.5:c.*1120A>T ENSP00000465053.1:n.*1120A>T
NM_030632.1:c.1996A>T NP_085135.1:p.Asn666Tyr
XM_005258356.1:c.1999A>T XP_005258413.1:p.Asn667Tyr
XM_011526205.1:c.1972A>T XP_011524507.1:p.Asn658Tyr
XM_011526206.1:c.1918A>T XP_011524508.1:p.Asn640Tyr
XM_011526207.1:c.1918A>T XP_011524509.1:p.Asn640Tyr
XM_011526208.1:c.1879A>T XP_011524510.1:p.Asn627Tyr
XM_011526209.1:c.1828A>T XP_011524511.1:p.Asn610Tyr
XM_011526210.1:c.1828A>T XP_011524512.1:p.Asn610Tyr
XM_011526211.1:c.1828A>T XP_011524513.1:p.Asn610Tyr
XM_011526212.1:c.1828A>T XP_011524514.1:p.Asn610Tyr
XM_011526213.1:c.1828A>T XP_011524515.1:p.Asn610Tyr
XM_011526214.1:c.1828A>T XP_011524516.1:p.Asn610Tyr
NM_030632.2:c.1996A>T NP_085135.1:p.Asn666Tyr
XM_011526205.2:c.1972A>T XP_011524507.1:p.Asn658Tyr
XM_011526206.2:c.1918A>T XP_011524508.1:p.Asn640Tyr
XM_011526213.2:c.1828A>T XP_011524515.1:p.Asn610Tyr
XM_017026012.1:c.1918A>T XP_016881501.1:p.Asn640Tyr
XM_017026013.1:c.1828A>T XP_016881502.1:p.Asn610Tyr
XM_017026014.2:c.1828A>T XP_016881503.1:p.Asn610Tyr
XM_024451269.1:c.1828A>T XP_024307037.1:p.Asn610Tyr
NM_030632.3:c.1996A>T MANE Select NP_085135.1:p.Asn666Tyr