Canonical Allele Identifier: CA8934248

Gene: ASXL3

Linked Data

• dbSNP Id: rs765399471
• ExAC: 18:31324188 G / C
• gnomAD v2: 18-31324188-G-C
• gnomAD v3: 18-33744224-G-C
• gnomAD v4: 18-33744224-G-C
• MyVariant Identifiers: chr18:g.31324188G>C (hg19) ; chr18:g.33744224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744224G>C , CM000680.2:g.33744224G>C	GRCh38
NC_000018.9:g.31324188G>C , CM000680.1:g.31324188G>C	GRCh37
NC_000018.8:g.29578186G>C	NCBI36
NG_055244.1:g.170648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4379G>C	ENSP00000513003.1:p.Gly1460Ala
ENST00000269197.12:c.4376G>C MANE Select	ENSP00000269197.4:p.Gly1459Ala
ENST00000681521.1:c.4256G>C	ENSP00000506037.1:p.Gly1419Ala
ENST00000269197.9:c.4376G>C	ENSP00000269197.4:p.Gly1459Ala
NM_030632.1:c.4376G>C	NP_085135.1:p.Gly1459Ala
XM_005258356.1:c.4379G>C	XP_005258413.1:p.Gly1460Ala
XM_011526205.1:c.4352G>C	XP_011524507.1:p.Gly1451Ala
XM_011526206.1:c.4298G>C	XP_011524508.1:p.Gly1433Ala
XM_011526207.1:c.4298G>C	XP_011524509.1:p.Gly1433Ala
XM_011526208.1:c.4259G>C	XP_011524510.1:p.Gly1420Ala
XM_011526209.1:c.4208G>C	XP_011524511.1:p.Gly1403Ala
XM_011526210.1:c.4208G>C	XP_011524512.1:p.Gly1403Ala
XM_011526211.1:c.4208G>C	XP_011524513.1:p.Gly1403Ala
XM_011526212.1:c.4208G>C	XP_011524514.1:p.Gly1403Ala
XM_011526213.1:c.4208G>C	XP_011524515.1:p.Gly1403Ala
XM_011526214.1:c.4208G>C	XP_011524516.1:p.Gly1403Ala
XM_011526215.1:c.1340G>C	XP_011524517.1:p.Gly447Ala
NM_030632.2:c.4376G>C	NP_085135.1:p.Gly1459Ala
XM_011526205.2:c.4352G>C	XP_011524507.1:p.Gly1451Ala
XM_011526206.2:c.4298G>C	XP_011524508.1:p.Gly1433Ala
XM_011526213.2:c.4208G>C	XP_011524515.1:p.Gly1403Ala
XM_017026012.1:c.4298G>C	XP_016881501.1:p.Gly1433Ala
XM_017026013.1:c.4208G>C	XP_016881502.1:p.Gly1403Ala
XM_017026014.2:c.4208G>C	XP_016881503.1:p.Gly1403Ala
XM_024451269.1:c.4208G>C	XP_024307037.1:p.Gly1403Ala
NM_030632.3:c.4376G>C MANE Select	NP_085135.1:p.Gly1459Ala