Canonical Allele Identifier: CA402185204

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33743222-A-C
• MyVariant Identifiers: chr18:g.31323186A>C (hg19) ; chr18:g.33743222A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743222A>C , CM000680.2:g.33743222A>C	GRCh38
NC_000018.9:g.31323186A>C , CM000680.1:g.31323186A>C	GRCh37
NC_000018.8:g.29577184A>C	NCBI36
NG_055244.1:g.169646A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3377A>C	ENSP00000513003.1:p.Lys1126Thr
ENST00000269197.12:c.3374A>C MANE Select	ENSP00000269197.4:p.Lys1125Thr
ENST00000592288.6:c.*2498A>C	ENSP00000465053.1:n.*2498A>C
ENST00000592541.6:c.*3033A>C	ENSP00000466655.2:n.*3033A>C
ENST00000593195.6:c.3586A>C	ENSP00000466073.1:n.3586A>C
ENST00000642541.1:c.3206A>C	ENSP00000493665.1:p.Lys1069Thr
ENST00000681521.1:c.3254A>C	ENSP00000506037.1:p.Lys1085Thr
ENST00000269197.9:c.3374A>C	ENSP00000269197.4:p.Lys1125Thr
ENST00000592288.5:c.*2498A>C	ENSP00000465053.1:n.*2498A>C
NM_030632.1:c.3374A>C	NP_085135.1:p.Lys1125Thr
XM_005258356.1:c.3377A>C	XP_005258413.1:p.Lys1126Thr
XM_011526205.1:c.3350A>C	XP_011524507.1:p.Lys1117Thr
XM_011526206.1:c.3296A>C	XP_011524508.1:p.Lys1099Thr
XM_011526207.1:c.3296A>C	XP_011524509.1:p.Lys1099Thr
XM_011526208.1:c.3257A>C	XP_011524510.1:p.Lys1086Thr
XM_011526209.1:c.3206A>C	XP_011524511.1:p.Lys1069Thr
XM_011526210.1:c.3206A>C	XP_011524512.1:p.Lys1069Thr
XM_011526211.1:c.3206A>C	XP_011524513.1:p.Lys1069Thr
XM_011526212.1:c.3206A>C	XP_011524514.1:p.Lys1069Thr
XM_011526213.1:c.3206A>C	XP_011524515.1:p.Lys1069Thr
XM_011526214.1:c.3206A>C	XP_011524516.1:p.Lys1069Thr
XM_011526215.1:c.338A>C	XP_011524517.1:p.Lys113Thr
NM_030632.2:c.3374A>C	NP_085135.1:p.Lys1125Thr
XM_011526205.2:c.3350A>C	XP_011524507.1:p.Lys1117Thr
XM_011526206.2:c.3296A>C	XP_011524508.1:p.Lys1099Thr
XM_011526213.2:c.3206A>C	XP_011524515.1:p.Lys1069Thr
XM_017026012.1:c.3296A>C	XP_016881501.1:p.Lys1099Thr
XM_017026013.1:c.3206A>C	XP_016881502.1:p.Lys1069Thr
XM_017026014.2:c.3206A>C	XP_016881503.1:p.Lys1069Thr
XM_024451269.1:c.3206A>C	XP_024307037.1:p.Lys1069Thr
NM_030632.3:c.3374A>C MANE Select	NP_085135.1:p.Lys1125Thr