Canonical Allele Identifier: CA354604803
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756893A>C , CM000665.2:g.133756893A>C GRCh38
NC_000003.11:g.133475737A>C , CM000665.1:g.133475737A>C GRCh37
NC_000003.10:g.134958427A>C NCBI36
NG_013080.1:g.15761A>C
NG_013080.2:g.99896A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.754A>C MANE Select ENSP00000385834.3:p.Lys252Gln
ENST00000402696.7:c.754A>C ENSP00000385834.3:p.Lys252Gln
ENST00000482271.5:c.373A>C ENSP00000419338.1:p.Lys125Gln
ENST00000485977.1:c.158-39A>C ENSP00000418716.1:n.158-39A>C
NM_001063.3:c.754A>C NP_001054.1:p.Lys252Gln
XM_011513100.1:c.754A>C XP_011511402.1:p.Lys252Gln
NM_001354703.1:c.622A>C NP_001341632.1:p.Lys208Gln
NM_001354704.1:c.373A>C NP_001341633.1:p.Lys125Gln
NM_001063.4:c.754A>C MANE Select NP_001054.2:p.Lys252Gln
NM_001354703.2:c.622A>C NP_001341632.2:p.Lys208Gln
NM_001354704.2:c.373A>C NP_001341633.2:p.Lys125Gln