Canonical Allele Identifier: CA402190759
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744213A>C , CM000680.2:g.33744213A>C GRCh38
NC_000018.9:g.31324177A>C , CM000680.1:g.31324177A>C GRCh37
NC_000018.8:g.29578175A>C NCBI36
NG_055244.1:g.170637A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696964.1:c.4368A>C ENSP00000513003.1:p.Gln1456His
ENST00000269197.12:c.4365A>C MANE Select ENSP00000269197.4:p.Gln1455His
ENST00000681521.1:c.4245A>C ENSP00000506037.1:p.Gln1415His
ENST00000269197.9:c.4365A>C ENSP00000269197.4:p.Gln1455His
NM_030632.1:c.4365A>C NP_085135.1:p.Gln1455His
XM_005258356.1:c.4368A>C XP_005258413.1:p.Gln1456His
XM_011526205.1:c.4341A>C XP_011524507.1:p.Gln1447His
XM_011526206.1:c.4287A>C XP_011524508.1:p.Gln1429His
XM_011526207.1:c.4287A>C XP_011524509.1:p.Gln1429His
XM_011526208.1:c.4248A>C XP_011524510.1:p.Gln1416His
XM_011526209.1:c.4197A>C XP_011524511.1:p.Gln1399His
XM_011526210.1:c.4197A>C XP_011524512.1:p.Gln1399His
XM_011526211.1:c.4197A>C XP_011524513.1:p.Gln1399His
XM_011526212.1:c.4197A>C XP_011524514.1:p.Gln1399His
XM_011526213.1:c.4197A>C XP_011524515.1:p.Gln1399His
XM_011526214.1:c.4197A>C XP_011524516.1:p.Gln1399His
XM_011526215.1:c.1329A>C XP_011524517.1:p.Gln443His
NM_030632.2:c.4365A>C NP_085135.1:p.Gln1455His
XM_011526205.2:c.4341A>C XP_011524507.1:p.Gln1447His
XM_011526206.2:c.4287A>C XP_011524508.1:p.Gln1429His
XM_011526213.2:c.4197A>C XP_011524515.1:p.Gln1399His
XM_017026012.1:c.4287A>C XP_016881501.1:p.Gln1429His
XM_017026013.1:c.4197A>C XP_016881502.1:p.Gln1399His
XM_017026014.2:c.4197A>C XP_016881503.1:p.Gln1399His
XM_024451269.1:c.4197A>C XP_024307037.1:p.Gln1399His
NM_030632.3:c.4365A>C MANE Select NP_085135.1:p.Gln1455His