Canonical Allele Identifier: CA8934309

Gene: ASXL3

Linked Data

• dbSNP Id: rs775373899
• ExAC: 18:31324489 C / G
• gnomAD v2: 18-31324489-C-G
• gnomAD v4: 18-33744525-C-G
• MyVariant Identifiers: chr18:g.31324489C>G (hg19) ; chr18:g.33744525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744525C>G , CM000680.2:g.33744525C>G	GRCh38
NC_000018.9:g.31324489C>G , CM000680.1:g.31324489C>G	GRCh37
NC_000018.8:g.29578487C>G	NCBI36
NG_055244.1:g.170949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4680C>G	ENSP00000513003.1:p.Leu1560=
ENST00000269197.12:c.4677C>G MANE Select	ENSP00000269197.4:p.Leu1559=
ENST00000681521.1:c.4557C>G	ENSP00000506037.1:p.Leu1519=
ENST00000269197.9:c.4677C>G	ENSP00000269197.4:p.Leu1559=
NM_030632.1:c.4677C>G	NP_085135.1:p.Leu1559=
XM_005258356.1:c.4680C>G	XP_005258413.1:p.Leu1560=
XM_011526205.1:c.4653C>G	XP_011524507.1:p.Leu1551=
XM_011526206.1:c.4599C>G	XP_011524508.1:p.Leu1533=
XM_011526207.1:c.4599C>G	XP_011524509.1:p.Leu1533=
XM_011526208.1:c.4560C>G	XP_011524510.1:p.Leu1520=
XM_011526209.1:c.4509C>G	XP_011524511.1:p.Leu1503=
XM_011526210.1:c.4509C>G	XP_011524512.1:p.Leu1503=
XM_011526211.1:c.4509C>G	XP_011524513.1:p.Leu1503=
XM_011526212.1:c.4509C>G	XP_011524514.1:p.Leu1503=
XM_011526213.1:c.4509C>G	XP_011524515.1:p.Leu1503=
XM_011526214.1:c.4509C>G	XP_011524516.1:p.Leu1503=
XM_011526215.1:c.1641C>G	XP_011524517.1:p.Leu547=
NM_030632.2:c.4677C>G	NP_085135.1:p.Leu1559=
XM_011526205.2:c.4653C>G	XP_011524507.1:p.Leu1551=
XM_011526206.2:c.4599C>G	XP_011524508.1:p.Leu1533=
XM_011526213.2:c.4509C>G	XP_011524515.1:p.Leu1503=
XM_017026012.1:c.4599C>G	XP_016881501.1:p.Leu1533=
XM_017026013.1:c.4509C>G	XP_016881502.1:p.Leu1503=
XM_017026014.2:c.4509C>G	XP_016881503.1:p.Leu1503=
XM_024451269.1:c.4509C>G	XP_024307037.1:p.Leu1503=
NM_030632.3:c.4677C>G MANE Select	NP_085135.1:p.Leu1559=