Canonical Allele Identifier: CA354604783
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756881G>T , CM000665.2:g.133756881G>T GRCh38
NC_000003.11:g.133475725G>T , CM000665.1:g.133475725G>T GRCh37
NC_000003.10:g.134958415G>T NCBI36
NG_013080.1:g.15749G>T
NG_013080.2:g.99884G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.742G>T MANE Select ENSP00000385834.3:p.Asp248Tyr
ENST00000402696.7:c.742G>T ENSP00000385834.3:p.Asp248Tyr
ENST00000482271.5:c.361G>T ENSP00000419338.1:p.Asp121Tyr
ENST00000485977.1:c.158-51G>T ENSP00000418716.1:n.158-51G>T
NM_001063.3:c.742G>T NP_001054.1:p.Asp248Tyr
XM_011513100.1:c.742G>T XP_011511402.1:p.Asp248Tyr
NM_001354703.1:c.610G>T NP_001341632.1:p.Asp204Tyr
NM_001354704.1:c.361G>T NP_001341633.1:p.Asp121Tyr
NM_001063.4:c.742G>T MANE Select NP_001054.2:p.Asp248Tyr
NM_001354703.2:c.610G>T NP_001341632.2:p.Asp204Tyr
NM_001354704.2:c.361G>T NP_001341633.2:p.Asp121Tyr