Canonical Allele Identifier: CA402190787

Gene: ASXL3

Linked Data

• MyVariant Identifiers: chr18:g.31324191T>C (hg19) ; chr18:g.33744227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744227T>C , CM000680.2:g.33744227T>C	GRCh38
NC_000018.9:g.31324191T>C , CM000680.1:g.31324191T>C	GRCh37
NC_000018.8:g.29578189T>C	NCBI36
NG_055244.1:g.170651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4382T>C	ENSP00000513003.1:p.Phe1461Ser
ENST00000269197.12:c.4379T>C MANE Select	ENSP00000269197.4:p.Phe1460Ser
ENST00000681521.1:c.4259T>C	ENSP00000506037.1:p.Phe1420Ser
ENST00000269197.9:c.4379T>C	ENSP00000269197.4:p.Phe1460Ser
NM_030632.1:c.4379T>C	NP_085135.1:p.Phe1460Ser
XM_005258356.1:c.4382T>C	XP_005258413.1:p.Phe1461Ser
XM_011526205.1:c.4355T>C	XP_011524507.1:p.Phe1452Ser
XM_011526206.1:c.4301T>C	XP_011524508.1:p.Phe1434Ser
XM_011526207.1:c.4301T>C	XP_011524509.1:p.Phe1434Ser
XM_011526208.1:c.4262T>C	XP_011524510.1:p.Phe1421Ser
XM_011526209.1:c.4211T>C	XP_011524511.1:p.Phe1404Ser
XM_011526210.1:c.4211T>C	XP_011524512.1:p.Phe1404Ser
XM_011526211.1:c.4211T>C	XP_011524513.1:p.Phe1404Ser
XM_011526212.1:c.4211T>C	XP_011524514.1:p.Phe1404Ser
XM_011526213.1:c.4211T>C	XP_011524515.1:p.Phe1404Ser
XM_011526214.1:c.4211T>C	XP_011524516.1:p.Phe1404Ser
XM_011526215.1:c.1343T>C	XP_011524517.1:p.Phe448Ser
NM_030632.2:c.4379T>C	NP_085135.1:p.Phe1460Ser
XM_011526205.2:c.4355T>C	XP_011524507.1:p.Phe1452Ser
XM_011526206.2:c.4301T>C	XP_011524508.1:p.Phe1434Ser
XM_011526213.2:c.4211T>C	XP_011524515.1:p.Phe1404Ser
XM_017026012.1:c.4301T>C	XP_016881501.1:p.Phe1434Ser
XM_017026013.1:c.4211T>C	XP_016881502.1:p.Phe1404Ser
XM_017026014.2:c.4211T>C	XP_016881503.1:p.Phe1404Ser
XM_024451269.1:c.4211T>C	XP_024307037.1:p.Phe1404Ser
NM_030632.3:c.4379T>C MANE Select	NP_085135.1:p.Phe1460Ser