Canonical Allele Identifier: CA354605039
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133757002A>G , CM000665.2:g.133757002A>G GRCh38
NC_000003.11:g.133475846A>G , CM000665.1:g.133475846A>G GRCh37
NC_000003.10:g.134958536A>G NCBI36
NG_013080.1:g.15870A>G
NG_013080.2:g.100005A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.863A>G MANE Select ENSP00000385834.3:p.Gln288Arg
ENST00000402696.7:c.863A>G ENSP00000385834.3:p.Gln288Arg
ENST00000485977.1:c.228A>G ENSP00000418716.1:p.Pro76=
NM_001063.3:c.863A>G NP_001054.1:p.Gln288Arg
XM_011513100.1:c.863A>G XP_011511402.1:p.Gln288Arg
NM_001354703.1:c.731A>G NP_001341632.1:p.Gln244Arg
NM_001354704.1:c.482A>G NP_001341633.1:p.Gln161Arg
NM_001063.4:c.863A>G MANE Select NP_001054.2:p.Gln288Arg
NM_001354703.2:c.731A>G NP_001341632.2:p.Gln244Arg
NM_001354704.2:c.482A>G NP_001341633.2:p.Gln161Arg