Canonical Allele Identifier: CA8934055

Gene: ASXL3

Linked Data

• dbSNP Id: rs766845591
• ExAC: 18:31323081 C / T
• gnomAD v2: 18-31323081-C-T
• gnomAD v3: 18-33743117-C-T
• gnomAD v4: 18-33743117-C-T
• COSMIC: COSM4488056 ; COSM4488057
• MyVariant Identifiers: chr18:g.31323081C>T (hg19) ; chr18:g.33743117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743117C>T , CM000680.2:g.33743117C>T	GRCh38
NC_000018.9:g.31323081C>T , CM000680.1:g.31323081C>T	GRCh37
NC_000018.8:g.29577079C>T	NCBI36
NG_055244.1:g.169541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3272C>T	ENSP00000513003.1:p.Pro1091Leu
ENST00000269197.12:c.3269C>T MANE Select	ENSP00000269197.4:p.Pro1090Leu
ENST00000592288.6:c.*2393C>T	ENSP00000465053.1:n.*2393C>T
ENST00000592541.6:c.*2928C>T	ENSP00000466655.2:n.*2928C>T
ENST00000593195.6:c.3481C>T	ENSP00000466073.1:n.3481C>T
ENST00000642541.1:c.3101C>T	ENSP00000493665.1:p.Pro1034Leu
ENST00000681521.1:c.3149C>T	ENSP00000506037.1:p.Pro1050Leu
ENST00000269197.9:c.3269C>T	ENSP00000269197.4:p.Pro1090Leu
ENST00000592288.5:c.*2393C>T	ENSP00000465053.1:n.*2393C>T
NM_030632.1:c.3269C>T	NP_085135.1:p.Pro1090Leu
XM_005258356.1:c.3272C>T	XP_005258413.1:p.Pro1091Leu
XM_011526205.1:c.3245C>T	XP_011524507.1:p.Pro1082Leu
XM_011526206.1:c.3191C>T	XP_011524508.1:p.Pro1064Leu
XM_011526207.1:c.3191C>T	XP_011524509.1:p.Pro1064Leu
XM_011526208.1:c.3152C>T	XP_011524510.1:p.Pro1051Leu
XM_011526209.1:c.3101C>T	XP_011524511.1:p.Pro1034Leu
XM_011526210.1:c.3101C>T	XP_011524512.1:p.Pro1034Leu
XM_011526211.1:c.3101C>T	XP_011524513.1:p.Pro1034Leu
XM_011526212.1:c.3101C>T	XP_011524514.1:p.Pro1034Leu
XM_011526213.1:c.3101C>T	XP_011524515.1:p.Pro1034Leu
XM_011526214.1:c.3101C>T	XP_011524516.1:p.Pro1034Leu
XM_011526215.1:c.233C>T	XP_011524517.1:p.Pro78Leu
NM_030632.2:c.3269C>T	NP_085135.1:p.Pro1090Leu
XM_011526205.2:c.3245C>T	XP_011524507.1:p.Pro1082Leu
XM_011526206.2:c.3191C>T	XP_011524508.1:p.Pro1064Leu
XM_011526213.2:c.3101C>T	XP_011524515.1:p.Pro1034Leu
XM_017026012.1:c.3191C>T	XP_016881501.1:p.Pro1064Leu
XM_017026013.1:c.3101C>T	XP_016881502.1:p.Pro1034Leu
XM_017026014.2:c.3101C>T	XP_016881503.1:p.Pro1034Leu
XM_024451269.1:c.3101C>T	XP_024307037.1:p.Pro1034Leu
NM_030632.3:c.3269C>T MANE Select	NP_085135.1:p.Pro1090Leu