Canonical Allele Identifier: CA402188561
Gene: ASXL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33743734A>T , CM000680.2:g.33743734A>T GRCh38
NC_000018.9:g.31323698A>T , CM000680.1:g.31323698A>T GRCh37
NC_000018.8:g.29577696A>T NCBI36
NG_055244.1:g.170158A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.3889A>T ENSP00000513003.1:p.Ile1297Leu
ENST00000269197.12:c.3886A>T MANE Select ENSP00000269197.4:p.Ile1296Leu
ENST00000681521.1:c.3766A>T ENSP00000506037.1:p.Ile1256Leu
ENST00000269197.9:c.3886A>T ENSP00000269197.4:p.Ile1296Leu
NM_030632.1:c.3886A>T NP_085135.1:p.Ile1296Leu
XM_005258356.1:c.3889A>T XP_005258413.1:p.Ile1297Leu
XM_011526205.1:c.3862A>T XP_011524507.1:p.Ile1288Leu
XM_011526206.1:c.3808A>T XP_011524508.1:p.Ile1270Leu
XM_011526207.1:c.3808A>T XP_011524509.1:p.Ile1270Leu
XM_011526208.1:c.3769A>T XP_011524510.1:p.Ile1257Leu
XM_011526209.1:c.3718A>T XP_011524511.1:p.Ile1240Leu
XM_011526210.1:c.3718A>T XP_011524512.1:p.Ile1240Leu
XM_011526211.1:c.3718A>T XP_011524513.1:p.Ile1240Leu
XM_011526212.1:c.3718A>T XP_011524514.1:p.Ile1240Leu
XM_011526213.1:c.3718A>T XP_011524515.1:p.Ile1240Leu
XM_011526214.1:c.3718A>T XP_011524516.1:p.Ile1240Leu
XM_011526215.1:c.850A>T XP_011524517.1:p.Ile284Leu
NM_030632.2:c.3886A>T NP_085135.1:p.Ile1296Leu
XM_011526205.2:c.3862A>T XP_011524507.1:p.Ile1288Leu
XM_011526206.2:c.3808A>T XP_011524508.1:p.Ile1270Leu
XM_011526213.2:c.3718A>T XP_011524515.1:p.Ile1240Leu
XM_017026012.1:c.3808A>T XP_016881501.1:p.Ile1270Leu
XM_017026013.1:c.3718A>T XP_016881502.1:p.Ile1240Leu
XM_017026014.2:c.3718A>T XP_016881503.1:p.Ile1240Leu
XM_024451269.1:c.3718A>T XP_024307037.1:p.Ile1240Leu
NM_030632.3:c.3886A>T MANE Select NP_085135.1:p.Ile1296Leu