Canonical Allele Identifier: CA354604765
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756873T>G , CM000665.2:g.133756873T>G GRCh38
NC_000003.11:g.133475717T>G , CM000665.1:g.133475717T>G GRCh37
NC_000003.10:g.134958407T>G NCBI36
NG_013080.1:g.15741T>G
NG_013080.2:g.99876T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.734T>G MANE Select ENSP00000385834.3:p.Leu245Arg
ENST00000402696.7:c.734T>G ENSP00000385834.3:p.Leu245Arg
ENST00000482271.5:c.353T>G ENSP00000419338.1:p.Leu118Arg
ENST00000485977.1:c.158-59T>G ENSP00000418716.1:n.158-59T>G
NM_001063.3:c.734T>G NP_001054.1:p.Leu245Arg
XM_011513100.1:c.734T>G XP_011511402.1:p.Leu245Arg
NM_001354703.1:c.602T>G NP_001341632.1:p.Leu201Arg
NM_001354704.1:c.353T>G NP_001341633.1:p.Leu118Arg
NM_001063.4:c.734T>G MANE Select NP_001054.2:p.Leu245Arg
NM_001354703.2:c.602T>G NP_001341632.2:p.Leu201Arg
NM_001354704.2:c.353T>G NP_001341633.2:p.Leu118Arg