Canonical Allele Identifier: CA354605002
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756986T>A , CM000665.2:g.133756986T>A GRCh38
NC_000003.11:g.133475830T>A , CM000665.1:g.133475830T>A GRCh37
NC_000003.10:g.134958520T>A NCBI36
NG_013080.1:g.15854T>A
NG_013080.2:g.99989T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.847T>A MANE Select ENSP00000385834.3:p.Trp283Arg
ENST00000402696.7:c.847T>A ENSP00000385834.3:p.Trp283Arg
ENST00000485977.1:c.212T>A ENSP00000418716.1:p.Leu71Gln
NM_001063.3:c.847T>A NP_001054.1:p.Trp283Arg
XM_011513100.1:c.847T>A XP_011511402.1:p.Trp283Arg
NM_001354703.1:c.715T>A NP_001341632.1:p.Trp239Arg
NM_001354704.1:c.466T>A NP_001341633.1:p.Trp156Arg
NM_001063.4:c.847T>A MANE Select NP_001054.2:p.Trp283Arg
NM_001354703.2:c.715T>A NP_001341632.2:p.Trp239Arg
NM_001354704.2:c.466T>A NP_001341633.2:p.Trp156Arg