Canonical Allele Identifier: CA354604750
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756868G>T , CM000665.2:g.133756868G>T GRCh38
NC_000003.11:g.133475712G>T , CM000665.1:g.133475712G>T GRCh37
NC_000003.10:g.134958402G>T NCBI36
NG_013080.1:g.15736G>T
NG_013080.2:g.99871G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.729G>T MANE Select ENSP00000385834.3:p.Glu243Asp
ENST00000402696.7:c.729G>T ENSP00000385834.3:p.Glu243Asp
ENST00000482271.5:c.348G>T ENSP00000419338.1:p.Glu116Asp
ENST00000485977.1:c.158-64G>T ENSP00000418716.1:n.158-64G>T
NM_001063.3:c.729G>T NP_001054.1:p.Glu243Asp
XM_011513100.1:c.729G>T XP_011511402.1:p.Glu243Asp
NM_001354703.1:c.597G>T NP_001341632.1:p.Glu199Asp
NM_001354704.1:c.348G>T NP_001341633.1:p.Glu116Asp
NM_001063.4:c.729G>T MANE Select NP_001054.2:p.Glu243Asp
NM_001354703.2:c.597G>T NP_001341632.2:p.Glu199Asp
NM_001354704.2:c.348G>T NP_001341633.2:p.Glu116Asp