Canonical Allele Identifier: CA402186247

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33743701-A-G
• COSMIC: COSM3970544
• MyVariant Identifiers: chr18:g.31323665A>G (hg19) ; chr18:g.33743701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743701A>G , CM000680.2:g.33743701A>G	GRCh38
NC_000018.9:g.31323665A>G , CM000680.1:g.31323665A>G	GRCh37
NC_000018.8:g.29577663A>G	NCBI36
NG_055244.1:g.170125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3856A>G	ENSP00000513003.1:p.Ile1286Val
ENST00000269197.12:c.3853A>G MANE Select	ENSP00000269197.4:p.Ile1285Val
ENST00000681521.1:c.3733A>G	ENSP00000506037.1:p.Ile1245Val
ENST00000269197.9:c.3853A>G	ENSP00000269197.4:p.Ile1285Val
NM_030632.1:c.3853A>G	NP_085135.1:p.Ile1285Val
XM_005258356.1:c.3856A>G	XP_005258413.1:p.Ile1286Val
XM_011526205.1:c.3829A>G	XP_011524507.1:p.Ile1277Val
XM_011526206.1:c.3775A>G	XP_011524508.1:p.Ile1259Val
XM_011526207.1:c.3775A>G	XP_011524509.1:p.Ile1259Val
XM_011526208.1:c.3736A>G	XP_011524510.1:p.Ile1246Val
XM_011526209.1:c.3685A>G	XP_011524511.1:p.Ile1229Val
XM_011526210.1:c.3685A>G	XP_011524512.1:p.Ile1229Val
XM_011526211.1:c.3685A>G	XP_011524513.1:p.Ile1229Val
XM_011526212.1:c.3685A>G	XP_011524514.1:p.Ile1229Val
XM_011526213.1:c.3685A>G	XP_011524515.1:p.Ile1229Val
XM_011526214.1:c.3685A>G	XP_011524516.1:p.Ile1229Val
XM_011526215.1:c.817A>G	XP_011524517.1:p.Ile273Val
NM_030632.2:c.3853A>G	NP_085135.1:p.Ile1285Val
XM_011526205.2:c.3829A>G	XP_011524507.1:p.Ile1277Val
XM_011526206.2:c.3775A>G	XP_011524508.1:p.Ile1259Val
XM_011526213.2:c.3685A>G	XP_011524515.1:p.Ile1229Val
XM_017026012.1:c.3775A>G	XP_016881501.1:p.Ile1259Val
XM_017026013.1:c.3685A>G	XP_016881502.1:p.Ile1229Val
XM_017026014.2:c.3685A>G	XP_016881503.1:p.Ile1229Val
XM_024451269.1:c.3685A>G	XP_024307037.1:p.Ile1229Val
NM_030632.3:c.3853A>G MANE Select	NP_085135.1:p.Ile1285Val