Canonical Allele Identifier: CA354605029
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756998A>C , CM000665.2:g.133756998A>C GRCh38
NC_000003.11:g.133475842A>C , CM000665.1:g.133475842A>C GRCh37
NC_000003.10:g.134958532A>C NCBI36
NG_013080.1:g.15866A>C
NG_013080.2:g.100001A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.859A>C MANE Select ENSP00000385834.3:p.Asn287His
ENST00000402696.7:c.859A>C ENSP00000385834.3:p.Asn287His
ENST00000485977.1:c.224A>C ENSP00000418716.1:p.Gln75Pro
NM_001063.3:c.859A>C NP_001054.1:p.Asn287His
XM_011513100.1:c.859A>C XP_011511402.1:p.Asn287His
NM_001354703.1:c.727A>C NP_001341632.1:p.Asn243His
NM_001354704.1:c.478A>C NP_001341633.1:p.Asn160His
NM_001063.4:c.859A>C MANE Select NP_001054.2:p.Asn287His
NM_001354703.2:c.727A>C NP_001341632.2:p.Asn243His
NM_001354704.2:c.478A>C NP_001341633.2:p.Asn160His