Canonical Allele Identifier: CA8934141

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1225563
• ClinVar RCV Id: RCV001611129 ; RCV003151341
• dbSNP Id: rs75740578
• ExAC: 18:31323741 A / C
• gnomAD v2: 18-31323741-A-C
• gnomAD v3: 18-33743777-A-C
• gnomAD v4: 18-33743777-A-C
• MyVariant Identifiers: chr18:g.31323741A>C (hg19) ; chr18:g.33743777A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743777A>C , CM000680.2:g.33743777A>C	GRCh38
NC_000018.9:g.31323741A>C , CM000680.1:g.31323741A>C	GRCh37
NC_000018.8:g.29577739A>C	NCBI36
NG_055244.1:g.170201A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3932A>C	ENSP00000513003.1:p.Glu1311Ala
ENST00000269197.12:c.3929A>C MANE Select	ENSP00000269197.4:p.Glu1310Ala
ENST00000681521.1:c.3809A>C	ENSP00000506037.1:p.Glu1270Ala
ENST00000269197.9:c.3929A>C	ENSP00000269197.4:p.Glu1310Ala
NM_030632.1:c.3929A>C	NP_085135.1:p.Glu1310Ala
XM_005258356.1:c.3932A>C	XP_005258413.1:p.Glu1311Ala
XM_011526205.1:c.3905A>C	XP_011524507.1:p.Glu1302Ala
XM_011526206.1:c.3851A>C	XP_011524508.1:p.Glu1284Ala
XM_011526207.1:c.3851A>C	XP_011524509.1:p.Glu1284Ala
XM_011526208.1:c.3812A>C	XP_011524510.1:p.Glu1271Ala
XM_011526209.1:c.3761A>C	XP_011524511.1:p.Glu1254Ala
XM_011526210.1:c.3761A>C	XP_011524512.1:p.Glu1254Ala
XM_011526211.1:c.3761A>C	XP_011524513.1:p.Glu1254Ala
XM_011526212.1:c.3761A>C	XP_011524514.1:p.Glu1254Ala
XM_011526213.1:c.3761A>C	XP_011524515.1:p.Glu1254Ala
XM_011526214.1:c.3761A>C	XP_011524516.1:p.Glu1254Ala
XM_011526215.1:c.893A>C	XP_011524517.1:p.Glu298Ala
NM_030632.2:c.3929A>C	NP_085135.1:p.Glu1310Ala
XM_011526205.2:c.3905A>C	XP_011524507.1:p.Glu1302Ala
XM_011526206.2:c.3851A>C	XP_011524508.1:p.Glu1284Ala
XM_011526213.2:c.3761A>C	XP_011524515.1:p.Glu1254Ala
XM_017026012.1:c.3851A>C	XP_016881501.1:p.Glu1284Ala
XM_017026013.1:c.3761A>C	XP_016881502.1:p.Glu1254Ala
XM_017026014.2:c.3761A>C	XP_016881503.1:p.Glu1254Ala
XM_024451269.1:c.3761A>C	XP_024307037.1:p.Glu1254Ala
NM_030632.3:c.3929A>C MANE Select	NP_085135.1:p.Glu1310Ala