Canonical Allele Identifier: CA8934273
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439293
ClinVar RCV Id: RCV003141628
dbSNP Id: rs754788550

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744338G>C , CM000680.2:g.33744338G>C GRCh38
NC_000018.9:g.31324302G>C , CM000680.1:g.31324302G>C GRCh37
NC_000018.8:g.29578300G>C NCBI36
NG_055244.1:g.170762G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4493G>C ENSP00000513003.1:p.Ser1498Thr
ENST00000269197.12:c.4490G>C MANE Select ENSP00000269197.4:p.Ser1497Thr
ENST00000681521.1:c.4370G>C ENSP00000506037.1:p.Ser1457Thr
ENST00000269197.9:c.4490G>C ENSP00000269197.4:p.Ser1497Thr
NM_030632.1:c.4490G>C NP_085135.1:p.Ser1497Thr
XM_005258356.1:c.4493G>C XP_005258413.1:p.Ser1498Thr
XM_011526205.1:c.4466G>C XP_011524507.1:p.Ser1489Thr
XM_011526206.1:c.4412G>C XP_011524508.1:p.Ser1471Thr
XM_011526207.1:c.4412G>C XP_011524509.1:p.Ser1471Thr
XM_011526208.1:c.4373G>C XP_011524510.1:p.Ser1458Thr
XM_011526209.1:c.4322G>C XP_011524511.1:p.Ser1441Thr
XM_011526210.1:c.4322G>C XP_011524512.1:p.Ser1441Thr
XM_011526211.1:c.4322G>C XP_011524513.1:p.Ser1441Thr
XM_011526212.1:c.4322G>C XP_011524514.1:p.Ser1441Thr
XM_011526213.1:c.4322G>C XP_011524515.1:p.Ser1441Thr
XM_011526214.1:c.4322G>C XP_011524516.1:p.Ser1441Thr
XM_011526215.1:c.1454G>C XP_011524517.1:p.Ser485Thr
NM_030632.2:c.4490G>C NP_085135.1:p.Ser1497Thr
XM_011526205.2:c.4466G>C XP_011524507.1:p.Ser1489Thr
XM_011526206.2:c.4412G>C XP_011524508.1:p.Ser1471Thr
XM_011526213.2:c.4322G>C XP_011524515.1:p.Ser1441Thr
XM_017026012.1:c.4412G>C XP_016881501.1:p.Ser1471Thr
XM_017026013.1:c.4322G>C XP_016881502.1:p.Ser1441Thr
XM_017026014.2:c.4322G>C XP_016881503.1:p.Ser1441Thr
XM_024451269.1:c.4322G>C XP_024307037.1:p.Ser1441Thr
NM_030632.3:c.4490G>C MANE Select NP_085135.1:p.Ser1497Thr