Canonical Allele Identifier: CA402190606
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744143T>C , CM000680.2:g.33744143T>C GRCh38
NC_000018.9:g.31324107T>C , CM000680.1:g.31324107T>C GRCh37
NC_000018.8:g.29578105T>C NCBI36
NG_055244.1:g.170567T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4298T>C ENSP00000513003.1:p.Leu1433Ser
ENST00000269197.12:c.4295T>C MANE Select ENSP00000269197.4:p.Leu1432Ser
ENST00000681521.1:c.4175T>C ENSP00000506037.1:p.Leu1392Ser
ENST00000269197.9:c.4295T>C ENSP00000269197.4:p.Leu1432Ser
NM_030632.1:c.4295T>C NP_085135.1:p.Leu1432Ser
XM_005258356.1:c.4298T>C XP_005258413.1:p.Leu1433Ser
XM_011526205.1:c.4271T>C XP_011524507.1:p.Leu1424Ser
XM_011526206.1:c.4217T>C XP_011524508.1:p.Leu1406Ser
XM_011526207.1:c.4217T>C XP_011524509.1:p.Leu1406Ser
XM_011526208.1:c.4178T>C XP_011524510.1:p.Leu1393Ser
XM_011526209.1:c.4127T>C XP_011524511.1:p.Leu1376Ser
XM_011526210.1:c.4127T>C XP_011524512.1:p.Leu1376Ser
XM_011526211.1:c.4127T>C XP_011524513.1:p.Leu1376Ser
XM_011526212.1:c.4127T>C XP_011524514.1:p.Leu1376Ser
XM_011526213.1:c.4127T>C XP_011524515.1:p.Leu1376Ser
XM_011526214.1:c.4127T>C XP_011524516.1:p.Leu1376Ser
XM_011526215.1:c.1259T>C XP_011524517.1:p.Leu420Ser
NM_030632.2:c.4295T>C NP_085135.1:p.Leu1432Ser
XM_011526205.2:c.4271T>C XP_011524507.1:p.Leu1424Ser
XM_011526206.2:c.4217T>C XP_011524508.1:p.Leu1406Ser
XM_011526213.2:c.4127T>C XP_011524515.1:p.Leu1376Ser
XM_017026012.1:c.4217T>C XP_016881501.1:p.Leu1406Ser
XM_017026013.1:c.4127T>C XP_016881502.1:p.Leu1376Ser
XM_017026014.2:c.4127T>C XP_016881503.1:p.Leu1376Ser
XM_024451269.1:c.4127T>C XP_024307037.1:p.Leu1376Ser
NM_030632.3:c.4295T>C MANE Select NP_085135.1:p.Leu1432Ser