Canonical Allele Identifier: CA402176958

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33739361-G-T
• MyVariant Identifiers: chr18:g.31319325G>T (hg19) ; chr18:g.33739361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739361G>T , CM000680.2:g.33739361G>T	GRCh38
NC_000018.9:g.31319325G>T , CM000680.1:g.31319325G>T	GRCh37
NC_000018.8:g.29573323G>T	NCBI36
NG_055244.1:g.165785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1960G>T	ENSP00000513003.1:p.Val654Leu
ENST00000269197.12:c.1957G>T MANE Select	ENSP00000269197.4:p.Val653Leu
ENST00000592288.6:c.*1081G>T	ENSP00000465053.1:n.*1081G>T
ENST00000592541.6:c.*1616G>T	ENSP00000466655.2:n.*1616G>T
ENST00000593195.6:c.2169G>T	ENSP00000466073.1:n.2169G>T
ENST00000642541.1:c.1789G>T	ENSP00000493665.1:p.Val597Leu
ENST00000681521.1:c.1837G>T	ENSP00000506037.1:p.Val613Leu
ENST00000269197.9:c.1957G>T	ENSP00000269197.4:p.Val653Leu
ENST00000592288.5:c.*1081G>T	ENSP00000465053.1:n.*1081G>T
NM_030632.1:c.1957G>T	NP_085135.1:p.Val653Leu
XM_005258356.1:c.1960G>T	XP_005258413.1:p.Val654Leu
XM_011526205.1:c.1933G>T	XP_011524507.1:p.Val645Leu
XM_011526206.1:c.1879G>T	XP_011524508.1:p.Val627Leu
XM_011526207.1:c.1879G>T	XP_011524509.1:p.Val627Leu
XM_011526208.1:c.1840G>T	XP_011524510.1:p.Val614Leu
XM_011526209.1:c.1789G>T	XP_011524511.1:p.Val597Leu
XM_011526210.1:c.1789G>T	XP_011524512.1:p.Val597Leu
XM_011526211.1:c.1789G>T	XP_011524513.1:p.Val597Leu
XM_011526212.1:c.1789G>T	XP_011524514.1:p.Val597Leu
XM_011526213.1:c.1789G>T	XP_011524515.1:p.Val597Leu
XM_011526214.1:c.1789G>T	XP_011524516.1:p.Val597Leu
NM_030632.2:c.1957G>T	NP_085135.1:p.Val653Leu
XM_011526205.2:c.1933G>T	XP_011524507.1:p.Val645Leu
XM_011526206.2:c.1879G>T	XP_011524508.1:p.Val627Leu
XM_011526213.2:c.1789G>T	XP_011524515.1:p.Val597Leu
XM_017026012.1:c.1879G>T	XP_016881501.1:p.Val627Leu
XM_017026013.1:c.1789G>T	XP_016881502.1:p.Val597Leu
XM_017026014.2:c.1789G>T	XP_016881503.1:p.Val597Leu
XM_024451269.1:c.1789G>T	XP_024307037.1:p.Val597Leu
NM_030632.3:c.1957G>T MANE Select	NP_085135.1:p.Val653Leu