Canonical Allele Identifier: CA354605053
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133757008A>T , CM000665.2:g.133757008A>T GRCh38
NC_000003.11:g.133475852A>T , CM000665.1:g.133475852A>T GRCh37
NC_000003.10:g.134958542A>T NCBI36
NG_013080.1:g.15876A>T
NG_013080.2:g.100011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.869A>T MANE Select ENSP00000385834.3:p.Gln290Leu
ENST00000402696.7:c.869A>T ENSP00000385834.3:p.Gln290Leu
ENST00000485977.1:c.234A>T ENSP00000418716.1:p.Pro78=
NM_001063.3:c.869A>T NP_001054.1:p.Gln290Leu
XM_011513100.1:c.869A>T XP_011511402.1:p.Gln290Leu
NM_001354703.1:c.737A>T NP_001341632.1:p.Gln246Leu
NM_001354704.1:c.488A>T NP_001341633.1:p.Gln163Leu
NM_001063.4:c.869A>T MANE Select NP_001054.2:p.Gln290Leu
NM_001354703.2:c.737A>T NP_001341632.2:p.Gln246Leu
NM_001354704.2:c.488A>T NP_001341633.2:p.Gln163Leu