Canonical Allele Identifier: CA354604811
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756896C>A , CM000665.2:g.133756896C>A GRCh38
NC_000003.11:g.133475740C>A , CM000665.1:g.133475740C>A GRCh37
NC_000003.10:g.134958430C>A NCBI36
NG_013080.1:g.15764C>A
NG_013080.2:g.99899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.757C>A MANE Select ENSP00000385834.3:p.Pro253Thr
ENST00000402696.7:c.757C>A ENSP00000385834.3:p.Pro253Thr
ENST00000482271.5:c.376C>A ENSP00000419338.1:p.Pro126Thr
ENST00000485977.1:c.158-36C>A ENSP00000418716.1:n.158-36C>A
NM_001063.3:c.757C>A NP_001054.1:p.Pro253Thr
XM_011513100.1:c.757C>A XP_011511402.1:p.Pro253Thr
NM_001354703.1:c.625C>A NP_001341632.1:p.Pro209Thr
NM_001354704.1:c.376C>A NP_001341633.1:p.Pro126Thr
NM_001063.4:c.757C>A MANE Select NP_001054.2:p.Pro253Thr
NM_001354703.2:c.625C>A NP_001341632.2:p.Pro209Thr
NM_001354704.2:c.376C>A NP_001341633.2:p.Pro126Thr