Canonical Allele Identifier: CA354608536
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766289A>T , CM000665.2:g.133766289A>T GRCh38
NC_000003.11:g.133485133A>T , CM000665.1:g.133485133A>T GRCh37
NC_000003.10:g.134967823A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1342A>T MANE Select ENSP00000385834.3:p.Ile448Leu
ENST00000402696.7:c.1342A>T ENSP00000385834.3:p.Ile448Leu
ENST00000461695.1:c.12A>T
XM_011513100.1:c.1342A>T XP_011511402.1:p.Ile448Leu
NM_001063.4:c.1342A>T MANE Select NP_001054.2:p.Ile448Leu
NM_001354703.2:c.1210A>T NP_001341632.2:p.Ile404Leu
NM_001354704.2:c.961A>T NP_001341633.2:p.Ile321Leu