Canonical Allele Identifier: CA8934054

Gene: ASXL3

Linked Data

• dbSNP Id: rs375086096
• ExAC: 18:31323080 C / G
• gnomAD v2: 18-31323080-C-G
• gnomAD v3: 18-33743116-C-G
• gnomAD v4: 18-33743116-C-G
• MyVariant Identifiers: chr18:g.31323080C>G (hg19) ; chr18:g.33743116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743116C>G , CM000680.2:g.33743116C>G	GRCh38
NC_000018.9:g.31323080C>G , CM000680.1:g.31323080C>G	GRCh37
NC_000018.8:g.29577078C>G	NCBI36
NG_055244.1:g.169540C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3271C>G	ENSP00000513003.1:p.Pro1091Ala
ENST00000269197.12:c.3268C>G MANE Select	ENSP00000269197.4:p.Pro1090Ala
ENST00000592288.6:c.*2392C>G	ENSP00000465053.1:n.*2392C>G
ENST00000592541.6:c.*2927C>G	ENSP00000466655.2:n.*2927C>G
ENST00000593195.6:c.3480C>G	ENSP00000466073.1:n.3480C>G
ENST00000642541.1:c.3100C>G	ENSP00000493665.1:p.Pro1034Ala
ENST00000681521.1:c.3148C>G	ENSP00000506037.1:p.Pro1050Ala
ENST00000269197.9:c.3268C>G	ENSP00000269197.4:p.Pro1090Ala
ENST00000592288.5:c.*2392C>G	ENSP00000465053.1:n.*2392C>G
NM_030632.1:c.3268C>G	NP_085135.1:p.Pro1090Ala
XM_005258356.1:c.3271C>G	XP_005258413.1:p.Pro1091Ala
XM_011526205.1:c.3244C>G	XP_011524507.1:p.Pro1082Ala
XM_011526206.1:c.3190C>G	XP_011524508.1:p.Pro1064Ala
XM_011526207.1:c.3190C>G	XP_011524509.1:p.Pro1064Ala
XM_011526208.1:c.3151C>G	XP_011524510.1:p.Pro1051Ala
XM_011526209.1:c.3100C>G	XP_011524511.1:p.Pro1034Ala
XM_011526210.1:c.3100C>G	XP_011524512.1:p.Pro1034Ala
XM_011526211.1:c.3100C>G	XP_011524513.1:p.Pro1034Ala
XM_011526212.1:c.3100C>G	XP_011524514.1:p.Pro1034Ala
XM_011526213.1:c.3100C>G	XP_011524515.1:p.Pro1034Ala
XM_011526214.1:c.3100C>G	XP_011524516.1:p.Pro1034Ala
XM_011526215.1:c.232C>G	XP_011524517.1:p.Pro78Ala
NM_030632.2:c.3268C>G	NP_085135.1:p.Pro1090Ala
XM_011526205.2:c.3244C>G	XP_011524507.1:p.Pro1082Ala
XM_011526206.2:c.3190C>G	XP_011524508.1:p.Pro1064Ala
XM_011526213.2:c.3100C>G	XP_011524515.1:p.Pro1034Ala
XM_017026012.1:c.3190C>G	XP_016881501.1:p.Pro1064Ala
XM_017026013.1:c.3100C>G	XP_016881502.1:p.Pro1034Ala
XM_017026014.2:c.3100C>G	XP_016881503.1:p.Pro1034Ala
XM_024451269.1:c.3100C>G	XP_024307037.1:p.Pro1034Ala
NM_030632.3:c.3268C>G MANE Select	NP_085135.1:p.Pro1090Ala