Canonical Allele Identifier: CA402191328

Gene: ASXL3

Linked Data

• dbSNP Id: rs1442117587
• gnomAD v2: 18-31324436-G-T
• gnomAD v4: 18-33744472-G-T
• COSMIC: COSM381446
• MyVariant Identifiers: chr18:g.31324436G>T (hg19) ; chr18:g.33744472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744472G>T , CM000680.2:g.33744472G>T	GRCh38
NC_000018.9:g.31324436G>T , CM000680.1:g.31324436G>T	GRCh37
NC_000018.8:g.29578434G>T	NCBI36
NG_055244.1:g.170896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4627G>T	ENSP00000513003.1:p.Ala1543Ser
ENST00000269197.12:c.4624G>T MANE Select	ENSP00000269197.4:p.Ala1542Ser
ENST00000681521.1:c.4504G>T	ENSP00000506037.1:p.Ala1502Ser
ENST00000269197.9:c.4624G>T	ENSP00000269197.4:p.Ala1542Ser
NM_030632.1:c.4624G>T	NP_085135.1:p.Ala1542Ser
XM_005258356.1:c.4627G>T	XP_005258413.1:p.Ala1543Ser
XM_011526205.1:c.4600G>T	XP_011524507.1:p.Ala1534Ser
XM_011526206.1:c.4546G>T	XP_011524508.1:p.Ala1516Ser
XM_011526207.1:c.4546G>T	XP_011524509.1:p.Ala1516Ser
XM_011526208.1:c.4507G>T	XP_011524510.1:p.Ala1503Ser
XM_011526209.1:c.4456G>T	XP_011524511.1:p.Ala1486Ser
XM_011526210.1:c.4456G>T	XP_011524512.1:p.Ala1486Ser
XM_011526211.1:c.4456G>T	XP_011524513.1:p.Ala1486Ser
XM_011526212.1:c.4456G>T	XP_011524514.1:p.Ala1486Ser
XM_011526213.1:c.4456G>T	XP_011524515.1:p.Ala1486Ser
XM_011526214.1:c.4456G>T	XP_011524516.1:p.Ala1486Ser
XM_011526215.1:c.1588G>T	XP_011524517.1:p.Ala530Ser
NM_030632.2:c.4624G>T	NP_085135.1:p.Ala1542Ser
XM_011526205.2:c.4600G>T	XP_011524507.1:p.Ala1534Ser
XM_011526206.2:c.4546G>T	XP_011524508.1:p.Ala1516Ser
XM_011526213.2:c.4456G>T	XP_011524515.1:p.Ala1486Ser
XM_017026012.1:c.4546G>T	XP_016881501.1:p.Ala1516Ser
XM_017026013.1:c.4456G>T	XP_016881502.1:p.Ala1486Ser
XM_017026014.2:c.4456G>T	XP_016881503.1:p.Ala1486Ser
XM_024451269.1:c.4456G>T	XP_024307037.1:p.Ala1486Ser
NM_030632.3:c.4624G>T MANE Select	NP_085135.1:p.Ala1542Ser