Canonical Allele Identifier: CA354604778
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756879T>A , CM000665.2:g.133756879T>A GRCh38
NC_000003.11:g.133475723T>A , CM000665.1:g.133475723T>A GRCh37
NC_000003.10:g.134958413T>A NCBI36
NG_013080.1:g.15747T>A
NG_013080.2:g.99882T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.740T>A MANE Select ENSP00000385834.3:p.Leu247Gln
ENST00000402696.7:c.740T>A ENSP00000385834.3:p.Leu247Gln
ENST00000482271.5:c.359T>A ENSP00000419338.1:p.Leu120Gln
ENST00000485977.1:c.158-53T>A ENSP00000418716.1:n.158-53T>A
NM_001063.3:c.740T>A NP_001054.1:p.Leu247Gln
XM_011513100.1:c.740T>A XP_011511402.1:p.Leu247Gln
NM_001354703.1:c.608T>A NP_001341632.1:p.Leu203Gln
NM_001354704.1:c.359T>A NP_001341633.1:p.Leu120Gln
NM_001063.4:c.740T>A MANE Select NP_001054.2:p.Leu247Gln
NM_001354703.2:c.608T>A NP_001341632.2:p.Leu203Gln
NM_001354704.2:c.359T>A NP_001341633.2:p.Leu120Gln