Canonical Allele Identifier: CA354605027
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756996T>G , CM000665.2:g.133756996T>G GRCh38
NC_000003.11:g.133475840T>G , CM000665.1:g.133475840T>G GRCh37
NC_000003.10:g.134958530T>G NCBI36
NG_013080.1:g.15864T>G
NG_013080.2:g.99999T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.857T>G MANE Select ENSP00000385834.3:p.Leu286Arg
ENST00000402696.7:c.857T>G ENSP00000385834.3:p.Leu286Arg
ENST00000485977.1:c.222T>G ENSP00000418716.1:p.Ser74=
NM_001063.3:c.857T>G NP_001054.1:p.Leu286Arg
XM_011513100.1:c.857T>G XP_011511402.1:p.Leu286Arg
NM_001354703.1:c.725T>G NP_001341632.1:p.Leu242Arg
NM_001354704.1:c.476T>G NP_001341633.1:p.Leu159Arg
NM_001063.4:c.857T>G MANE Select NP_001054.2:p.Leu286Arg
NM_001354703.2:c.725T>G NP_001341632.2:p.Leu242Arg
NM_001354704.2:c.476T>G NP_001341633.2:p.Leu159Arg