Canonical Allele Identifier: CA8934314

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 3130625
• ClinVar RCV Id: RCV004423022
• dbSNP Id: rs767030560
• ExAC: 18:31324527 C / T
• gnomAD v2: 18-31324527-C-T
• gnomAD v3: 18-33744563-C-T
• gnomAD v4: 18-33744563-C-T
• MyVariant Identifiers: chr18:g.31324527C>T (hg19) ; chr18:g.33744563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744563C>T , CM000680.2:g.33744563C>T	GRCh38
NC_000018.9:g.31324527C>T , CM000680.1:g.31324527C>T	GRCh37
NC_000018.8:g.29578525C>T	NCBI36
NG_055244.1:g.170987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4718C>T	ENSP00000513003.1:p.Pro1573Leu
ENST00000269197.12:c.4715C>T MANE Select	ENSP00000269197.4:p.Pro1572Leu
ENST00000681521.1:c.4595C>T	ENSP00000506037.1:p.Pro1532Leu
ENST00000269197.9:c.4715C>T	ENSP00000269197.4:p.Pro1572Leu
NM_030632.1:c.4715C>T	NP_085135.1:p.Pro1572Leu
XM_005258356.1:c.4718C>T	XP_005258413.1:p.Pro1573Leu
XM_011526205.1:c.4691C>T	XP_011524507.1:p.Pro1564Leu
XM_011526206.1:c.4637C>T	XP_011524508.1:p.Pro1546Leu
XM_011526207.1:c.4637C>T	XP_011524509.1:p.Pro1546Leu
XM_011526208.1:c.4598C>T	XP_011524510.1:p.Pro1533Leu
XM_011526209.1:c.4547C>T	XP_011524511.1:p.Pro1516Leu
XM_011526210.1:c.4547C>T	XP_011524512.1:p.Pro1516Leu
XM_011526211.1:c.4547C>T	XP_011524513.1:p.Pro1516Leu
XM_011526212.1:c.4547C>T	XP_011524514.1:p.Pro1516Leu
XM_011526213.1:c.4547C>T	XP_011524515.1:p.Pro1516Leu
XM_011526214.1:c.4547C>T	XP_011524516.1:p.Pro1516Leu
XM_011526215.1:c.1679C>T	XP_011524517.1:p.Pro560Leu
NM_030632.2:c.4715C>T	NP_085135.1:p.Pro1572Leu
XM_011526205.2:c.4691C>T	XP_011524507.1:p.Pro1564Leu
XM_011526206.2:c.4637C>T	XP_011524508.1:p.Pro1546Leu
XM_011526213.2:c.4547C>T	XP_011524515.1:p.Pro1516Leu
XM_017026012.1:c.4637C>T	XP_016881501.1:p.Pro1546Leu
XM_017026013.1:c.4547C>T	XP_016881502.1:p.Pro1516Leu
XM_017026014.2:c.4547C>T	XP_016881503.1:p.Pro1516Leu
XM_024451269.1:c.4547C>T	XP_024307037.1:p.Pro1516Leu
NM_030632.3:c.4715C>T MANE Select	NP_085135.1:p.Pro1572Leu