Canonical Allele Identifier: CA1403107316
Gene: TF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756924T= , CM000665.2:g.133756924T= GRCh38
NC_000003.11:g.133475768T= , CM000665.1:g.133475768T= GRCh37
NC_000003.10:g.134958458T= NCBI36
NG_013080.1:g.15792T=
NG_013080.2:g.99927T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.785T= MANE Select ENSP00000385834.3:p.Leu262=
ENST00000402696.7:c.785T= ENSP00000385834.3:p.Leu262=
ENST00000485977.1:c.158-8T= ENSP00000418716.1:n.158-8T=
NM_001063.3:c.785T= NP_001054.1:p.Leu262=
XM_011513100.1:c.785T= XP_011511402.1:p.Leu262=
NM_001354703.1:c.653T= NP_001341632.1:p.Leu218=
NM_001354704.1:c.404T= NP_001341633.1:p.Leu135=
NM_001063.4:c.785T= MANE Select NP_001054.2:p.Leu262=
NM_001354703.2:c.653T= NP_001341632.2:p.Leu218=
NM_001354704.2:c.404T= NP_001341633.2:p.Leu135=