Canonical Allele Identifier: CA16616935

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 417928
• ClinVar RCV Id: RCV000477964 ; RCV000726055
• dbSNP Id: rs1060499602
• MyVariant Identifiers: chr18:g.31318839C>T (hg19) ; chr18:g.33738875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738875C>T , CM000680.2:g.33738875C>T	GRCh38
NC_000018.9:g.31318839C>T , CM000680.1:g.31318839C>T	GRCh37
NC_000018.8:g.29572837C>T	NCBI36
NG_055244.1:g.165299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1474C>T	ENSP00000513003.1:p.Gln492Ter
ENST00000269197.12:c.1471C>T MANE Select	ENSP00000269197.4:p.Gln491Ter
ENST00000592288.6:c.*595C>T	ENSP00000465053.1:n.*595C>T
ENST00000592541.6:c.*1130C>T	ENSP00000466655.2:n.*1130C>T
ENST00000593195.6:c.1683C>T	ENSP00000466073.1:n.1683C>T
ENST00000642541.1:c.1303C>T	ENSP00000493665.1:p.Gln435Ter
ENST00000681521.1:c.1351C>T	ENSP00000506037.1:p.Gln451Ter
ENST00000269197.9:c.1471C>T	ENSP00000269197.4:p.Gln491Ter
ENST00000592288.5:c.*595C>T	ENSP00000465053.1:n.*595C>T
NM_030632.1:c.1471C>T	NP_085135.1:p.Gln491Ter
XM_005258356.1:c.1474C>T	XP_005258413.1:p.Gln492Ter
XM_011526205.1:c.1447C>T	XP_011524507.1:p.Gln483Ter
XM_011526206.1:c.1393C>T	XP_011524508.1:p.Gln465Ter
XM_011526207.1:c.1393C>T	XP_011524509.1:p.Gln465Ter
XM_011526208.1:c.1354C>T	XP_011524510.1:p.Gln452Ter
XM_011526209.1:c.1303C>T	XP_011524511.1:p.Gln435Ter
XM_011526210.1:c.1303C>T	XP_011524512.1:p.Gln435Ter
XM_011526211.1:c.1303C>T	XP_011524513.1:p.Gln435Ter
XM_011526212.1:c.1303C>T	XP_011524514.1:p.Gln435Ter
XM_011526213.1:c.1303C>T	XP_011524515.1:p.Gln435Ter
XM_011526214.1:c.1303C>T	XP_011524516.1:p.Gln435Ter
NM_030632.2:c.1471C>T	NP_085135.1:p.Gln491Ter
XM_011526205.2:c.1447C>T	XP_011524507.1:p.Gln483Ter
XM_011526206.2:c.1393C>T	XP_011524508.1:p.Gln465Ter
XM_011526213.2:c.1303C>T	XP_011524515.1:p.Gln435Ter
XM_017026012.1:c.1393C>T	XP_016881501.1:p.Gln465Ter
XM_017026013.1:c.1303C>T	XP_016881502.1:p.Gln435Ter
XM_017026014.2:c.1303C>T	XP_016881503.1:p.Gln435Ter
XM_024451269.1:c.1303C>T	XP_024307037.1:p.Gln435Ter
NM_030632.3:c.1471C>T MANE Select	NP_085135.1:p.Gln491Ter