Canonical Allele Identifier: CA354604782
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.742G>C MANE Select ENSP00000385834.3:p.Asp248His
ENST00000402696.7:c.742G>C ENSP00000385834.3:p.Asp248His
ENST00000482271.5:c.361G>C ENSP00000419338.1:p.Asp121His
ENST00000485977.1:c.158-51G>C ENSP00000418716.1:n.158-51G>C
NM_001063.3:c.742G>C NP_001054.1:p.Asp248His
XM_011513100.1:c.742G>C XP_011511402.1:p.Asp248His
NM_001354703.1:c.610G>C NP_001341632.1:p.Asp204His
NM_001354704.1:c.361G>C NP_001341633.1:p.Asp121His
NM_001063.4:c.742G>C MANE Select NP_001054.2:p.Asp248His
NM_001354703.2:c.610G>C NP_001341632.2:p.Asp204His
NM_001354704.2:c.361G>C NP_001341633.2:p.Asp121His