Canonical Allele Identifier: CA1796654125
Community Standard Title: NM_012258.4(HEY1):c.*894A=
Gene: HEY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79764294T= , CM000670.2:g.79764294T= GRCh38
NC_000008.10:g.80676529T= , CM000670.1:g.80676529T= GRCh37
NC_000008.9:g.80839084T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012258.4:c.*894A= MANE Select NP_036390.3:n.*894A=
ENST00000354724.8:c.*894A= MANE Select ENSP00000346761.3:n.*894A=
NM_001040708.1:c.*894A= NP_001035798.1:n.*894A=
NM_001040708.2:c.*894A= NP_001035798.1:n.*894A=
NM_001282851.1:c.*894A= NP_001269780.1:n.*894A=
NM_001282851.2:c.*894A= NP_001269780.1:n.*894A=
NM_012258.3:c.*894A= NP_036390.3:n.*894A=
ENST00000337919.9:c.*894A= ENSP00000338272.5:n.*894A=
ENST00000354724.7:c.*894A= ENSP00000346761.3:n.*894A=
ENST00000435063.3:n.1609A=
ENST00000435063.4:n.1620A=
ENST00000519075.2:n.3417A=
ENST00000521111.2:n.3121A=
ENST00000523531.2:n.2059A=
ENST00000523976.2:c.*894A= ENSP00000429792.1:n.*894A=
ENST00000674160.1:c.*1549A= ENSP00000501529.1:n.*1549A=
ENST00000674177.1:c.*1636A= ENSP00000501471.1:n.*1636A=
ENST00000674295.1:c.*894A= ENSP00000501320.1:n.*894A=
ENST00000674358.1:c.*894A= ENSP00000501370.1:n.*894A=
ENST00000674418.1:c.*894A= ENSP00000501342.1:n.*894A=
ENST00000674439.1:n.2037A=