Canonical Allele Identifier: CA1403122676
Gene: TF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775492C= , CM000665.2:g.133775492C= GRCh38
NC_000003.11:g.133494336C= , CM000665.1:g.133494336C= GRCh37
NC_000003.10:g.134977026C= NCBI36
NG_013080.1:g.34360C=
NG_013080.2:g.118495C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1747C= MANE Select ENSP00000385834.3:p.Leu583=
ENST00000402696.7:c.1747C= ENSP00000385834.3:p.Leu583=
ENST00000461695.1:c.478C=
ENST00000467842.1:n.2741C=
NM_001063.3:c.1747C= NP_001054.1:p.Leu583=
XM_011513100.1:c.1747C= XP_011511402.1:p.Leu583=
NM_001354703.1:c.1615C= NP_001341632.1:p.Leu539=
NM_001354704.1:c.1366C= NP_001341633.1:p.Leu456=
NM_001063.4:c.1747C= MANE Select NP_001054.2:p.Leu583=
NM_001354703.2:c.1615C= NP_001341632.2:p.Leu539=
NM_001354704.2:c.1366C= NP_001341633.2:p.Leu456=