Canonical Allele Identifier: CA402190457
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744070G>T , CM000680.2:g.33744070G>T GRCh38
NC_000018.9:g.31324034G>T , CM000680.1:g.31324034G>T GRCh37
NC_000018.8:g.29578032G>T NCBI36
NG_055244.1:g.170494G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4225G>T ENSP00000513003.1:p.Val1409Phe
ENST00000269197.12:c.4222G>T MANE Select ENSP00000269197.4:p.Val1408Phe
ENST00000681521.1:c.4102G>T ENSP00000506037.1:p.Val1368Phe
ENST00000269197.9:c.4222G>T ENSP00000269197.4:p.Val1408Phe
NM_030632.1:c.4222G>T NP_085135.1:p.Val1408Phe
XM_005258356.1:c.4225G>T XP_005258413.1:p.Val1409Phe
XM_011526205.1:c.4198G>T XP_011524507.1:p.Val1400Phe
XM_011526206.1:c.4144G>T XP_011524508.1:p.Val1382Phe
XM_011526207.1:c.4144G>T XP_011524509.1:p.Val1382Phe
XM_011526208.1:c.4105G>T XP_011524510.1:p.Val1369Phe
XM_011526209.1:c.4054G>T XP_011524511.1:p.Val1352Phe
XM_011526210.1:c.4054G>T XP_011524512.1:p.Val1352Phe
XM_011526211.1:c.4054G>T XP_011524513.1:p.Val1352Phe
XM_011526212.1:c.4054G>T XP_011524514.1:p.Val1352Phe
XM_011526213.1:c.4054G>T XP_011524515.1:p.Val1352Phe
XM_011526214.1:c.4054G>T XP_011524516.1:p.Val1352Phe
XM_011526215.1:c.1186G>T XP_011524517.1:p.Val396Phe
NM_030632.2:c.4222G>T NP_085135.1:p.Val1408Phe
XM_011526205.2:c.4198G>T XP_011524507.1:p.Val1400Phe
XM_011526206.2:c.4144G>T XP_011524508.1:p.Val1382Phe
XM_011526213.2:c.4054G>T XP_011524515.1:p.Val1352Phe
XM_017026012.1:c.4144G>T XP_016881501.1:p.Val1382Phe
XM_017026013.1:c.4054G>T XP_016881502.1:p.Val1352Phe
XM_017026014.2:c.4054G>T XP_016881503.1:p.Val1352Phe
XM_024451269.1:c.4054G>T XP_024307037.1:p.Val1352Phe
NM_030632.3:c.4222G>T MANE Select NP_085135.1:p.Val1408Phe