Canonical Allele Identifier: CA8934130

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1257808
• ClinVar RCV Id: RCV001665771
• dbSNP Id: rs548915343
• ExAC: 18:31323665 A / C
• gnomAD v2: 18-31323665-A-C
• gnomAD v3: 18-33743701-A-C
• gnomAD v4: 18-33743701-A-C
• MyVariant Identifiers: chr18:g.31323665A>C (hg19) ; chr18:g.33743701A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3856A>C	ENSP00000513003.1:p.Ile1286Leu
ENST00000269197.12:c.3853A>C MANE Select	ENSP00000269197.4:p.Ile1285Leu
ENST00000681521.1:c.3733A>C	ENSP00000506037.1:p.Ile1245Leu
ENST00000269197.9:c.3853A>C	ENSP00000269197.4:p.Ile1285Leu
NM_030632.1:c.3853A>C	NP_085135.1:p.Ile1285Leu
XM_005258356.1:c.3856A>C	XP_005258413.1:p.Ile1286Leu
XM_011526205.1:c.3829A>C	XP_011524507.1:p.Ile1277Leu
XM_011526206.1:c.3775A>C	XP_011524508.1:p.Ile1259Leu
XM_011526207.1:c.3775A>C	XP_011524509.1:p.Ile1259Leu
XM_011526208.1:c.3736A>C	XP_011524510.1:p.Ile1246Leu
XM_011526209.1:c.3685A>C	XP_011524511.1:p.Ile1229Leu
XM_011526210.1:c.3685A>C	XP_011524512.1:p.Ile1229Leu
XM_011526211.1:c.3685A>C	XP_011524513.1:p.Ile1229Leu
XM_011526212.1:c.3685A>C	XP_011524514.1:p.Ile1229Leu
XM_011526213.1:c.3685A>C	XP_011524515.1:p.Ile1229Leu
XM_011526214.1:c.3685A>C	XP_011524516.1:p.Ile1229Leu
XM_011526215.1:c.817A>C	XP_011524517.1:p.Ile273Leu
NM_030632.2:c.3853A>C	NP_085135.1:p.Ile1285Leu
XM_011526205.2:c.3829A>C	XP_011524507.1:p.Ile1277Leu
XM_011526206.2:c.3775A>C	XP_011524508.1:p.Ile1259Leu
XM_011526213.2:c.3685A>C	XP_011524515.1:p.Ile1229Leu
XM_017026012.1:c.3775A>C	XP_016881501.1:p.Ile1259Leu
XM_017026013.1:c.3685A>C	XP_016881502.1:p.Ile1229Leu
XM_017026014.2:c.3685A>C	XP_016881503.1:p.Ile1229Leu
XM_024451269.1:c.3685A>C	XP_024307037.1:p.Ile1229Leu
NM_030632.3:c.3853A>C MANE Select	NP_085135.1:p.Ile1285Leu