Canonical Allele Identifier: CA354604784
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756882A>C , CM000665.2:g.133756882A>C GRCh38
NC_000003.11:g.133475726A>C , CM000665.1:g.133475726A>C GRCh37
NC_000003.10:g.134958416A>C NCBI36
NG_013080.1:g.15750A>C
NG_013080.2:g.99885A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.743A>C MANE Select ENSP00000385834.3:p.Asp248Ala
ENST00000402696.7:c.743A>C ENSP00000385834.3:p.Asp248Ala
ENST00000482271.5:c.362A>C ENSP00000419338.1:p.Asp121Ala
ENST00000485977.1:c.158-50A>C ENSP00000418716.1:n.158-50A>C
NM_001063.3:c.743A>C NP_001054.1:p.Asp248Ala
XM_011513100.1:c.743A>C XP_011511402.1:p.Asp248Ala
NM_001354703.1:c.611A>C NP_001341632.1:p.Asp204Ala
NM_001354704.1:c.362A>C NP_001341633.1:p.Asp121Ala
NM_001063.4:c.743A>C MANE Select NP_001054.2:p.Asp248Ala
NM_001354703.2:c.611A>C NP_001341632.2:p.Asp204Ala
NM_001354704.2:c.362A>C NP_001341633.2:p.Asp121Ala