Canonical Allele Identifier: CA1403107174
Gene: TF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756869C= , CM000665.2:g.133756869C= GRCh38
NC_000003.11:g.133475713C= , CM000665.1:g.133475713C= GRCh37
NC_000003.10:g.134958403C= NCBI36
NG_013080.1:g.15737C=
NG_013080.2:g.99872C=

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.730C= MANE Select ENSP00000385834.3:p.Leu244=
ENST00000402696.7:c.730C= ENSP00000385834.3:p.Leu244=
ENST00000482271.5:c.349C= ENSP00000419338.1:p.Leu117=
ENST00000485977.1:c.158-63C= ENSP00000418716.1:n.158-63C=
NM_001063.3:c.730C= NP_001054.1:p.Leu244=
XM_011513100.1:c.730C= XP_011511402.1:p.Leu244=
NM_001354703.1:c.598C= NP_001341632.1:p.Leu200=
NM_001354704.1:c.349C= NP_001341633.1:p.Leu117=
NM_001063.4:c.730C= MANE Select NP_001054.2:p.Leu244=
NM_001354703.2:c.598C= NP_001341632.2:p.Leu200=
NM_001354704.2:c.349C= NP_001341633.2:p.Leu117=