Canonical Allele Identifier: CA354604913
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756942A>T , CM000665.2:g.133756942A>T GRCh38
NC_000003.11:g.133475786A>T , CM000665.1:g.133475786A>T GRCh37
NC_000003.10:g.134958476A>T NCBI36
NG_013080.1:g.15810A>T
NG_013080.2:g.99945A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.803A>T MANE Select ENSP00000385834.3:p.His268Leu
ENST00000402696.7:c.803A>T ENSP00000385834.3:p.His268Leu
ENST00000485977.1:c.168A>T ENSP00000418716.1:p.Ser56=
NM_001063.3:c.803A>T NP_001054.1:p.His268Leu
XM_011513100.1:c.803A>T XP_011511402.1:p.His268Leu
NM_001354703.1:c.671A>T NP_001341632.1:p.His224Leu
NM_001354704.1:c.422A>T NP_001341633.1:p.His141Leu
NM_001063.4:c.803A>T MANE Select NP_001054.2:p.His268Leu
NM_001354703.2:c.671A>T NP_001341632.2:p.His224Leu
NM_001354704.2:c.422A>T NP_001341633.2:p.His141Leu