Canonical Allele Identifier: CA354608761
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766394A>T , CM000665.2:g.133766394A>T GRCh38
NC_000003.11:g.133485238A>T , CM000665.1:g.133485238A>T GRCh37
NC_000003.10:g.134967928A>T NCBI36
NG_013080.1:g.25262A>T
NG_013080.2:g.109397A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1447A>T MANE Select ENSP00000385834.3:p.Met483Leu
ENST00000402696.7:c.1447A>T ENSP00000385834.3:p.Met483Leu
ENST00000461695.1:c.117A>T
NM_001063.3:c.1447A>T NP_001054.1:p.Met483Leu
XM_011513100.1:c.1447A>T XP_011511402.1:p.Met483Leu
NM_001354703.1:c.1315A>T NP_001341632.1:p.Met439Leu
NM_001354704.1:c.1066A>T NP_001341633.1:p.Met356Leu
NM_001063.4:c.1447A>T MANE Select NP_001054.2:p.Met483Leu
NM_001354703.2:c.1315A>T NP_001341632.2:p.Met439Leu
NM_001354704.2:c.1066A>T NP_001341633.2:p.Met356Leu