Canonical Allele Identifier: CA402190850

Gene: ASXL3

Linked Data

• dbSNP Id: rs1340269666
• gnomAD v2: 18-31324224-G-A
• gnomAD v4: 18-33744260-G-A
• MyVariant Identifiers: chr18:g.31324224G>A (hg19) ; chr18:g.33744260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744260G>A , CM000680.2:g.33744260G>A	GRCh38
NC_000018.9:g.31324224G>A , CM000680.1:g.31324224G>A	GRCh37
NC_000018.8:g.29578222G>A	NCBI36
NG_055244.1:g.170684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4415G>A	ENSP00000513003.1:p.Cys1472Tyr
ENST00000269197.12:c.4412G>A MANE Select	ENSP00000269197.4:p.Cys1471Tyr
ENST00000681521.1:c.4292G>A	ENSP00000506037.1:p.Cys1431Tyr
ENST00000269197.9:c.4412G>A	ENSP00000269197.4:p.Cys1471Tyr
NM_030632.1:c.4412G>A	NP_085135.1:p.Cys1471Tyr
XM_005258356.1:c.4415G>A	XP_005258413.1:p.Cys1472Tyr
XM_011526205.1:c.4388G>A	XP_011524507.1:p.Cys1463Tyr
XM_011526206.1:c.4334G>A	XP_011524508.1:p.Cys1445Tyr
XM_011526207.1:c.4334G>A	XP_011524509.1:p.Cys1445Tyr
XM_011526208.1:c.4295G>A	XP_011524510.1:p.Cys1432Tyr
XM_011526209.1:c.4244G>A	XP_011524511.1:p.Cys1415Tyr
XM_011526210.1:c.4244G>A	XP_011524512.1:p.Cys1415Tyr
XM_011526211.1:c.4244G>A	XP_011524513.1:p.Cys1415Tyr
XM_011526212.1:c.4244G>A	XP_011524514.1:p.Cys1415Tyr
XM_011526213.1:c.4244G>A	XP_011524515.1:p.Cys1415Tyr
XM_011526214.1:c.4244G>A	XP_011524516.1:p.Cys1415Tyr
XM_011526215.1:c.1376G>A	XP_011524517.1:p.Cys459Tyr
NM_030632.2:c.4412G>A	NP_085135.1:p.Cys1471Tyr
XM_011526205.2:c.4388G>A	XP_011524507.1:p.Cys1463Tyr
XM_011526206.2:c.4334G>A	XP_011524508.1:p.Cys1445Tyr
XM_011526213.2:c.4244G>A	XP_011524515.1:p.Cys1415Tyr
XM_017026012.1:c.4334G>A	XP_016881501.1:p.Cys1445Tyr
XM_017026013.1:c.4244G>A	XP_016881502.1:p.Cys1415Tyr
XM_017026014.2:c.4244G>A	XP_016881503.1:p.Cys1415Tyr
XM_024451269.1:c.4244G>A	XP_024307037.1:p.Cys1415Tyr
NM_030632.3:c.4412G>A MANE Select	NP_085135.1:p.Cys1471Tyr