Canonical Allele Identifier: CA354604813
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756897C>A , CM000665.2:g.133756897C>A GRCh38
NC_000003.11:g.133475741C>A , CM000665.1:g.133475741C>A GRCh37
NC_000003.10:g.134958431C>A NCBI36
NG_013080.1:g.15765C>A
NG_013080.2:g.99900C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.758C>A MANE Select ENSP00000385834.3:p.Pro253Gln
ENST00000402696.7:c.758C>A ENSP00000385834.3:p.Pro253Gln
ENST00000482271.5:c.377C>A ENSP00000419338.1:p.Pro126Gln
ENST00000485977.1:c.158-35C>A ENSP00000418716.1:n.158-35C>A
NM_001063.3:c.758C>A NP_001054.1:p.Pro253Gln
XM_011513100.1:c.758C>A XP_011511402.1:p.Pro253Gln
NM_001354703.1:c.626C>A NP_001341632.1:p.Pro209Gln
NM_001354704.1:c.377C>A NP_001341633.1:p.Pro126Gln
NM_001063.4:c.758C>A MANE Select NP_001054.2:p.Pro253Gln
NM_001354703.2:c.626C>A NP_001341632.2:p.Pro209Gln
NM_001354704.2:c.377C>A NP_001341633.2:p.Pro126Gln