Canonical Allele Identifier: CA354604788
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756884A>C , CM000665.2:g.133756884A>C GRCh38
NC_000003.11:g.133475728A>C , CM000665.1:g.133475728A>C GRCh37
NC_000003.10:g.134958418A>C NCBI36
NG_013080.1:g.15752A>C
NG_013080.2:g.99887A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.745A>C MANE Select ENSP00000385834.3:p.Asn249His
ENST00000402696.7:c.745A>C ENSP00000385834.3:p.Asn249His
ENST00000482271.5:c.364A>C ENSP00000419338.1:p.Asn122His
ENST00000485977.1:c.158-48A>C ENSP00000418716.1:n.158-48A>C
NM_001063.3:c.745A>C NP_001054.1:p.Asn249His
XM_011513100.1:c.745A>C XP_011511402.1:p.Asn249His
NM_001354703.1:c.613A>C NP_001341632.1:p.Asn205His
NM_001354704.1:c.364A>C NP_001341633.1:p.Asn122His
NM_001063.4:c.745A>C MANE Select NP_001054.2:p.Asn249His
NM_001354703.2:c.613A>C NP_001341632.2:p.Asn205His
NM_001354704.2:c.364A>C NP_001341633.2:p.Asn122His