Canonical Allele Identifier: CA354604761
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756870T>G , CM000665.2:g.133756870T>G GRCh38
NC_000003.11:g.133475714T>G , CM000665.1:g.133475714T>G GRCh37
NC_000003.10:g.134958404T>G NCBI36
NG_013080.1:g.15738T>G
NG_013080.2:g.99873T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.731T>G MANE Select ENSP00000385834.3:p.Leu244Arg
ENST00000402696.7:c.731T>G ENSP00000385834.3:p.Leu244Arg
ENST00000482271.5:c.350T>G ENSP00000419338.1:p.Leu117Arg
ENST00000485977.1:c.158-62T>G ENSP00000418716.1:n.158-62T>G
NM_001063.3:c.731T>G NP_001054.1:p.Leu244Arg
XM_011513100.1:c.731T>G XP_011511402.1:p.Leu244Arg
NM_001354703.1:c.599T>G NP_001341632.1:p.Leu200Arg
NM_001354704.1:c.350T>G NP_001341633.1:p.Leu117Arg
NM_001063.4:c.731T>G MANE Select NP_001054.2:p.Leu244Arg
NM_001354703.2:c.599T>G NP_001341632.2:p.Leu200Arg
NM_001354704.2:c.350T>G NP_001341633.2:p.Leu117Arg