Canonical Allele Identifier: CA1200175084
Gene: ASH1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155442246C>G , CM000663.2:g.155442246C>G GRCh38
NC_000001.10:g.155412037C>G , CM000663.1:g.155412037C>G GRCh37
NC_000001.9:g.153678661C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392403.8:c.5087-3178G>C MANE Select ENSP00000376204.3:n.5087-3178G>C
ENST00000676814.1:c.*104-3178G>C ENSP00000504300.1:n.*104-3178G>C
ENST00000677042.1:c.5087-1653G>C ENSP00000503440.1:n.5087-1653G>C
ENST00000677213.1:c.5087-3178G>C ENSP00000503315.1:n.5087-3178G>C
ENST00000677825.1:c.5087-3178G>C ENSP00000503792.1:n.5087-3178G>C
ENST00000678117.1:c.5087-3178G>C ENSP00000504629.1:n.5087-3178G>C
ENST00000678699.1:c.5087-1653G>C ENSP00000503202.1:n.5087-1653G>C
ENST00000679097.1:c.5087-3178G>C ENSP00000503265.1:n.5087-3178G>C
ENST00000679133.1:c.5087-3178G>C ENSP00000504026.1:n.5087-3178G>C
ENST00000679333.1:c.5087-3178G>C ENSP00000504598.1:n.5087-3178G>C
ENST00000368346.7:c.5087-3178G>C ENSP00000357330.3:n.5087-3178G>C
ENST00000392403.7:c.5087-3178G>C ENSP00000376204.3:n.5087-3178G>C
NM_018489.2:c.5087-3178G>C NP_060959.2:n.5087-3178G>C
XM_005245337.3:c.5087-1653G>C XP_005245394.1:n.5087-1653G>C
XM_006711450.2:c.5087-3178G>C XP_006711513.1:n.5087-3178G>C
XM_006711451.2:c.5087-3178G>C XP_006711514.1:n.5087-3178G>C
XM_006711452.2:c.5087-3178G>C XP_006711515.1:n.5087-3178G>C
XM_011509769.1:c.5087-1653G>C XP_011508071.1:n.5087-1653G>C
NM_001366177.1:c.5087-3178G>C NP_001353106.1:n.5087-3178G>C
XM_005245337.5:c.5087-1653G>C XP_005245394.1:n.5087-1653G>C
XM_006711450.3:c.5087-3178G>C XP_006711513.1:n.5087-3178G>C
XM_006711451.3:c.5087-3178G>C XP_006711514.1:n.5087-3178G>C
XM_006711452.4:c.5087-3178G>C XP_006711515.1:n.5087-3178G>C
XM_011509769.3:c.5087-1653G>C XP_011508071.1:n.5087-1653G>C
XM_011509770.3:c.-165-1653G>C XP_011508072.1:n.-165-1653G>C
XM_017001784.1:c.5087-3178G>C XP_016857273.1:n.5087-3178G>C
XM_017001785.1:c.5087-3178G>C XP_016857274.1:n.5087-3178G>C
XM_017001786.2:c.5087-3178G>C XP_016857275.1:n.5087-3178G>C
XM_017001787.2:c.5087-3178G>C XP_016857276.1:n.5087-3178G>C
NM_018489.3:c.5087-3178G>C MANE Select NP_060959.2:n.5087-3178G>C
NM_001366177.2:c.5087-3178G>C NP_001353106.1:n.5087-3178G>C