Canonical Allele Identifier: CA402191232
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744427C>G , CM000680.2:g.33744427C>G GRCh38
NC_000018.9:g.31324391C>G , CM000680.1:g.31324391C>G GRCh37
NC_000018.8:g.29578389C>G NCBI36
NG_055244.1:g.170851C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4582C>G ENSP00000513003.1:p.Pro1528Ala
ENST00000269197.12:c.4579C>G MANE Select ENSP00000269197.4:p.Pro1527Ala
ENST00000681521.1:c.4459C>G ENSP00000506037.1:p.Pro1487Ala
ENST00000269197.9:c.4579C>G ENSP00000269197.4:p.Pro1527Ala
NM_030632.1:c.4579C>G NP_085135.1:p.Pro1527Ala
XM_005258356.1:c.4582C>G XP_005258413.1:p.Pro1528Ala
XM_011526205.1:c.4555C>G XP_011524507.1:p.Pro1519Ala
XM_011526206.1:c.4501C>G XP_011524508.1:p.Pro1501Ala
XM_011526207.1:c.4501C>G XP_011524509.1:p.Pro1501Ala
XM_011526208.1:c.4462C>G XP_011524510.1:p.Pro1488Ala
XM_011526209.1:c.4411C>G XP_011524511.1:p.Pro1471Ala
XM_011526210.1:c.4411C>G XP_011524512.1:p.Pro1471Ala
XM_011526211.1:c.4411C>G XP_011524513.1:p.Pro1471Ala
XM_011526212.1:c.4411C>G XP_011524514.1:p.Pro1471Ala
XM_011526213.1:c.4411C>G XP_011524515.1:p.Pro1471Ala
XM_011526214.1:c.4411C>G XP_011524516.1:p.Pro1471Ala
XM_011526215.1:c.1543C>G XP_011524517.1:p.Pro515Ala
NM_030632.2:c.4579C>G NP_085135.1:p.Pro1527Ala
XM_011526205.2:c.4555C>G XP_011524507.1:p.Pro1519Ala
XM_011526206.2:c.4501C>G XP_011524508.1:p.Pro1501Ala
XM_011526213.2:c.4411C>G XP_011524515.1:p.Pro1471Ala
XM_017026012.1:c.4501C>G XP_016881501.1:p.Pro1501Ala
XM_017026013.1:c.4411C>G XP_016881502.1:p.Pro1471Ala
XM_017026014.2:c.4411C>G XP_016881503.1:p.Pro1471Ala
XM_024451269.1:c.4411C>G XP_024307037.1:p.Pro1471Ala
NM_030632.3:c.4579C>G MANE Select NP_085135.1:p.Pro1527Ala