Canonical Allele Identifier: CA402184655
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33743009T>G , CM000680.2:g.33743009T>G GRCh38
NC_000018.9:g.31322973T>G , CM000680.1:g.31322973T>G GRCh37
NC_000018.8:g.29576971T>G NCBI36
NG_055244.1:g.169433T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.3164T>G ENSP00000513003.1:p.Leu1055Arg
ENST00000269197.12:c.3161T>G MANE Select ENSP00000269197.4:p.Leu1054Arg
ENST00000592288.6:c.*2285T>G ENSP00000465053.1:n.*2285T>G
ENST00000592541.6:c.*2820T>G ENSP00000466655.2:n.*2820T>G
ENST00000593195.6:c.3373T>G ENSP00000466073.1:n.3373T>G
ENST00000642541.1:c.2993T>G ENSP00000493665.1:p.Leu998Arg
ENST00000681521.1:c.3041T>G ENSP00000506037.1:p.Leu1014Arg
ENST00000269197.9:c.3161T>G ENSP00000269197.4:p.Leu1054Arg
ENST00000592288.5:c.*2285T>G ENSP00000465053.1:n.*2285T>G
NM_030632.1:c.3161T>G NP_085135.1:p.Leu1054Arg
XM_005258356.1:c.3164T>G XP_005258413.1:p.Leu1055Arg
XM_011526205.1:c.3137T>G XP_011524507.1:p.Leu1046Arg
XM_011526206.1:c.3083T>G XP_011524508.1:p.Leu1028Arg
XM_011526207.1:c.3083T>G XP_011524509.1:p.Leu1028Arg
XM_011526208.1:c.3044T>G XP_011524510.1:p.Leu1015Arg
XM_011526209.1:c.2993T>G XP_011524511.1:p.Leu998Arg
XM_011526210.1:c.2993T>G XP_011524512.1:p.Leu998Arg
XM_011526211.1:c.2993T>G XP_011524513.1:p.Leu998Arg
XM_011526212.1:c.2993T>G XP_011524514.1:p.Leu998Arg
XM_011526213.1:c.2993T>G XP_011524515.1:p.Leu998Arg
XM_011526214.1:c.2993T>G XP_011524516.1:p.Leu998Arg
XM_011526215.1:c.125T>G XP_011524517.1:p.Leu42Arg
NM_030632.2:c.3161T>G NP_085135.1:p.Leu1054Arg
XM_011526205.2:c.3137T>G XP_011524507.1:p.Leu1046Arg
XM_011526206.2:c.3083T>G XP_011524508.1:p.Leu1028Arg
XM_011526213.2:c.2993T>G XP_011524515.1:p.Leu998Arg
XM_017026012.1:c.3083T>G XP_016881501.1:p.Leu1028Arg
XM_017026013.1:c.2993T>G XP_016881502.1:p.Leu998Arg
XM_017026014.2:c.2993T>G XP_016881503.1:p.Leu998Arg
XM_024451269.1:c.2993T>G XP_024307037.1:p.Leu998Arg
NM_030632.3:c.3161T>G MANE Select NP_085135.1:p.Leu1054Arg