Canonical Allele Identifier: CA402191051
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744341T>A , CM000680.2:g.33744341T>A GRCh38
NC_000018.9:g.31324305T>A , CM000680.1:g.31324305T>A GRCh37
NC_000018.8:g.29578303T>A NCBI36
NG_055244.1:g.170765T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4496T>A ENSP00000513003.1:p.Leu1499Ter
ENST00000269197.12:c.4493T>A MANE Select ENSP00000269197.4:p.Leu1498Ter
ENST00000681521.1:c.4373T>A ENSP00000506037.1:p.Leu1458Ter
ENST00000269197.9:c.4493T>A ENSP00000269197.4:p.Leu1498Ter
NM_030632.1:c.4493T>A NP_085135.1:p.Leu1498Ter
XM_005258356.1:c.4496T>A XP_005258413.1:p.Leu1499Ter
XM_011526205.1:c.4469T>A XP_011524507.1:p.Leu1490Ter
XM_011526206.1:c.4415T>A XP_011524508.1:p.Leu1472Ter
XM_011526207.1:c.4415T>A XP_011524509.1:p.Leu1472Ter
XM_011526208.1:c.4376T>A XP_011524510.1:p.Leu1459Ter
XM_011526209.1:c.4325T>A XP_011524511.1:p.Leu1442Ter
XM_011526210.1:c.4325T>A XP_011524512.1:p.Leu1442Ter
XM_011526211.1:c.4325T>A XP_011524513.1:p.Leu1442Ter
XM_011526212.1:c.4325T>A XP_011524514.1:p.Leu1442Ter
XM_011526213.1:c.4325T>A XP_011524515.1:p.Leu1442Ter
XM_011526214.1:c.4325T>A XP_011524516.1:p.Leu1442Ter
XM_011526215.1:c.1457T>A XP_011524517.1:p.Leu486Ter
NM_030632.2:c.4493T>A NP_085135.1:p.Leu1498Ter
XM_011526205.2:c.4469T>A XP_011524507.1:p.Leu1490Ter
XM_011526206.2:c.4415T>A XP_011524508.1:p.Leu1472Ter
XM_011526213.2:c.4325T>A XP_011524515.1:p.Leu1442Ter
XM_017026012.1:c.4415T>A XP_016881501.1:p.Leu1472Ter
XM_017026013.1:c.4325T>A XP_016881502.1:p.Leu1442Ter
XM_017026014.2:c.4325T>A XP_016881503.1:p.Leu1442Ter
XM_024451269.1:c.4325T>A XP_024307037.1:p.Leu1442Ter
NM_030632.3:c.4493T>A MANE Select NP_085135.1:p.Leu1498Ter