Canonical Allele Identifier: CA8934230
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3130620
ClinVar RCV Id: RCV004423017
dbSNP Id: rs552739752

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33744134C>T , CM000680.2:g.33744134C>T GRCh38
NC_000018.9:g.31324098C>T , CM000680.1:g.31324098C>T GRCh37
NC_000018.8:g.29578096C>T NCBI36
NG_055244.1:g.170558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.4289C>T ENSP00000513003.1:p.Pro1430Leu
ENST00000269197.12:c.4286C>T MANE Select ENSP00000269197.4:p.Pro1429Leu
ENST00000681521.1:c.4166C>T ENSP00000506037.1:p.Pro1389Leu
ENST00000269197.9:c.4286C>T ENSP00000269197.4:p.Pro1429Leu
NM_030632.1:c.4286C>T NP_085135.1:p.Pro1429Leu
XM_005258356.1:c.4289C>T XP_005258413.1:p.Pro1430Leu
XM_011526205.1:c.4262C>T XP_011524507.1:p.Pro1421Leu
XM_011526206.1:c.4208C>T XP_011524508.1:p.Pro1403Leu
XM_011526207.1:c.4208C>T XP_011524509.1:p.Pro1403Leu
XM_011526208.1:c.4169C>T XP_011524510.1:p.Pro1390Leu
XM_011526209.1:c.4118C>T XP_011524511.1:p.Pro1373Leu
XM_011526210.1:c.4118C>T XP_011524512.1:p.Pro1373Leu
XM_011526211.1:c.4118C>T XP_011524513.1:p.Pro1373Leu
XM_011526212.1:c.4118C>T XP_011524514.1:p.Pro1373Leu
XM_011526213.1:c.4118C>T XP_011524515.1:p.Pro1373Leu
XM_011526214.1:c.4118C>T XP_011524516.1:p.Pro1373Leu
XM_011526215.1:c.1250C>T XP_011524517.1:p.Pro417Leu
NM_030632.2:c.4286C>T NP_085135.1:p.Pro1429Leu
XM_011526205.2:c.4262C>T XP_011524507.1:p.Pro1421Leu
XM_011526206.2:c.4208C>T XP_011524508.1:p.Pro1403Leu
XM_011526213.2:c.4118C>T XP_011524515.1:p.Pro1373Leu
XM_017026012.1:c.4208C>T XP_016881501.1:p.Pro1403Leu
XM_017026013.1:c.4118C>T XP_016881502.1:p.Pro1373Leu
XM_017026014.2:c.4118C>T XP_016881503.1:p.Pro1373Leu
XM_024451269.1:c.4118C>T XP_024307037.1:p.Pro1373Leu
NM_030632.3:c.4286C>T MANE Select NP_085135.1:p.Pro1429Leu