Canonical Allele Identifier: CA354605005
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756987G>T , CM000665.2:g.133756987G>T GRCh38
NC_000003.11:g.133475831G>T , CM000665.1:g.133475831G>T GRCh37
NC_000003.10:g.134958521G>T NCBI36
NG_013080.1:g.15855G>T
NG_013080.2:g.99990G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.848G>T MANE Select ENSP00000385834.3:p.Trp283Leu
ENST00000402696.7:c.848G>T ENSP00000385834.3:p.Trp283Leu
ENST00000485977.1:c.213G>T ENSP00000418716.1:p.Leu71=
NM_001063.3:c.848G>T NP_001054.1:p.Trp283Leu
XM_011513100.1:c.848G>T XP_011511402.1:p.Trp283Leu
NM_001354703.1:c.716G>T NP_001341632.1:p.Trp239Leu
NM_001354704.1:c.467G>T NP_001341633.1:p.Trp156Leu
NM_001063.4:c.848G>T MANE Select NP_001054.2:p.Trp283Leu
NM_001354703.2:c.716G>T NP_001341632.2:p.Trp239Leu
NM_001354704.2:c.467G>T NP_001341633.2:p.Trp156Leu