Canonical Allele Identifier: CA354608724
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766377C>T , CM000665.2:g.133766377C>T GRCh38
NC_000003.11:g.133485221C>T , CM000665.1:g.133485221C>T GRCh37
NC_000003.10:g.134967911C>T NCBI36
NG_013080.1:g.25245C>T
NG_013080.2:g.109380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1430C>T MANE Select ENSP00000385834.3:p.Ala477Val
ENST00000402696.7:c.1430C>T ENSP00000385834.3:p.Ala477Val
ENST00000461695.1:c.100C>T
NM_001063.3:c.1430C>T NP_001054.1:p.Ala477Val
XM_011513100.1:c.1430C>T XP_011511402.1:p.Ala477Val
NM_001354703.1:c.1298C>T NP_001341632.1:p.Ala433Val
NM_001354704.1:c.1049C>T NP_001341633.1:p.Ala350Val
NM_001063.4:c.1430C>T MANE Select NP_001054.2:p.Ala477Val
NM_001354703.2:c.1298C>T NP_001341632.2:p.Ala433Val
NM_001354704.2:c.1049C>T NP_001341633.2:p.Ala350Val