Canonical Allele Identifier: CA297793738

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1708662
• ClinVar RCV Id: RCV002287946
• dbSNP Id: rs199978752
• gnomAD v2: 18-31324490-C-T
• gnomAD v4: 18-33744526-C-T
• MyVariant Identifiers: chr18:g.31324490C>T (hg19) ; chr18:g.33744526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744526C>T , CM000680.2:g.33744526C>T	GRCh38
NC_000018.9:g.31324490C>T , CM000680.1:g.31324490C>T	GRCh37
NC_000018.8:g.29578488C>T	NCBI36
NG_055244.1:g.170950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4681C>T	ENSP00000513003.1:p.Arg1561Ter
ENST00000269197.12:c.4678C>T MANE Select	ENSP00000269197.4:p.Arg1560Ter
ENST00000681521.1:c.4558C>T	ENSP00000506037.1:p.Arg1520Ter
ENST00000269197.9:c.4678C>T	ENSP00000269197.4:p.Arg1560Ter
NM_030632.1:c.4678C>T	NP_085135.1:p.Arg1560Ter
XM_005258356.1:c.4681C>T	XP_005258413.1:p.Arg1561Ter
XM_011526205.1:c.4654C>T	XP_011524507.1:p.Arg1552Ter
XM_011526206.1:c.4600C>T	XP_011524508.1:p.Arg1534Ter
XM_011526207.1:c.4600C>T	XP_011524509.1:p.Arg1534Ter
XM_011526208.1:c.4561C>T	XP_011524510.1:p.Arg1521Ter
XM_011526209.1:c.4510C>T	XP_011524511.1:p.Arg1504Ter
XM_011526210.1:c.4510C>T	XP_011524512.1:p.Arg1504Ter
XM_011526211.1:c.4510C>T	XP_011524513.1:p.Arg1504Ter
XM_011526212.1:c.4510C>T	XP_011524514.1:p.Arg1504Ter
XM_011526213.1:c.4510C>T	XP_011524515.1:p.Arg1504Ter
XM_011526214.1:c.4510C>T	XP_011524516.1:p.Arg1504Ter
XM_011526215.1:c.1642C>T	XP_011524517.1:p.Arg548Ter
NM_030632.2:c.4678C>T	NP_085135.1:p.Arg1560Ter
XM_011526205.2:c.4654C>T	XP_011524507.1:p.Arg1552Ter
XM_011526206.2:c.4600C>T	XP_011524508.1:p.Arg1534Ter
XM_011526213.2:c.4510C>T	XP_011524515.1:p.Arg1504Ter
XM_017026012.1:c.4600C>T	XP_016881501.1:p.Arg1534Ter
XM_017026013.1:c.4510C>T	XP_016881502.1:p.Arg1504Ter
XM_017026014.2:c.4510C>T	XP_016881503.1:p.Arg1504Ter
XM_024451269.1:c.4510C>T	XP_024307037.1:p.Arg1504Ter
NM_030632.3:c.4678C>T MANE Select	NP_085135.1:p.Arg1560Ter