Canonical Allele Identifier: CA402191162

Gene: ASXL3

Linked Data

• MyVariant Identifiers: chr18:g.31324359G>T (hg19) ; chr18:g.33744395G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744395G>T , CM000680.2:g.33744395G>T	GRCh38
NC_000018.9:g.31324359G>T , CM000680.1:g.31324359G>T	GRCh37
NC_000018.8:g.29578357G>T	NCBI36
NG_055244.1:g.170819G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4550G>T	ENSP00000513003.1:p.Cys1517Phe
ENST00000269197.12:c.4547G>T MANE Select	ENSP00000269197.4:p.Cys1516Phe
ENST00000681521.1:c.4427G>T	ENSP00000506037.1:p.Cys1476Phe
ENST00000269197.9:c.4547G>T	ENSP00000269197.4:p.Cys1516Phe
NM_030632.1:c.4547G>T	NP_085135.1:p.Cys1516Phe
XM_005258356.1:c.4550G>T	XP_005258413.1:p.Cys1517Phe
XM_011526205.1:c.4523G>T	XP_011524507.1:p.Cys1508Phe
XM_011526206.1:c.4469G>T	XP_011524508.1:p.Cys1490Phe
XM_011526207.1:c.4469G>T	XP_011524509.1:p.Cys1490Phe
XM_011526208.1:c.4430G>T	XP_011524510.1:p.Cys1477Phe
XM_011526209.1:c.4379G>T	XP_011524511.1:p.Cys1460Phe
XM_011526210.1:c.4379G>T	XP_011524512.1:p.Cys1460Phe
XM_011526211.1:c.4379G>T	XP_011524513.1:p.Cys1460Phe
XM_011526212.1:c.4379G>T	XP_011524514.1:p.Cys1460Phe
XM_011526213.1:c.4379G>T	XP_011524515.1:p.Cys1460Phe
XM_011526214.1:c.4379G>T	XP_011524516.1:p.Cys1460Phe
XM_011526215.1:c.1511G>T	XP_011524517.1:p.Cys504Phe
NM_030632.2:c.4547G>T	NP_085135.1:p.Cys1516Phe
XM_011526205.2:c.4523G>T	XP_011524507.1:p.Cys1508Phe
XM_011526206.2:c.4469G>T	XP_011524508.1:p.Cys1490Phe
XM_011526213.2:c.4379G>T	XP_011524515.1:p.Cys1460Phe
XM_017026012.1:c.4469G>T	XP_016881501.1:p.Cys1490Phe
XM_017026013.1:c.4379G>T	XP_016881502.1:p.Cys1460Phe
XM_017026014.2:c.4379G>T	XP_016881503.1:p.Cys1460Phe
XM_024451269.1:c.4379G>T	XP_024307037.1:p.Cys1460Phe
NM_030632.3:c.4547G>T MANE Select	NP_085135.1:p.Cys1516Phe