Canonical Allele Identifier: CA354611196
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777119T>G , CM000665.2:g.133777119T>G GRCh38
NC_000003.11:g.133495963T>G , CM000665.1:g.133495963T>G GRCh37
NC_000003.10:g.134978653T>G NCBI36
NG_013080.1:g.35987T>G
NG_013080.2:g.120122T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1943T>G MANE Select ENSP00000385834.3:p.Leu648Arg
ENST00000402696.7:c.1943T>G ENSP00000385834.3:p.Leu648Arg
ENST00000461695.1:c.674T>G
ENST00000467842.1:n.2937T>G
NM_001063.3:c.1943T>G NP_001054.1:p.Leu648Arg
XM_011513100.1:c.1943T>G XP_011511402.1:p.Leu648Arg
NM_001354703.1:c.1811T>G NP_001341632.1:p.Leu604Arg
NM_001354704.1:c.1562T>G NP_001341633.1:p.Leu521Arg
NM_001063.4:c.1943T>G MANE Select NP_001054.2:p.Leu648Arg
NM_001354703.2:c.1811T>G NP_001341632.2:p.Leu604Arg
NM_001354704.2:c.1562T>G NP_001341633.2:p.Leu521Arg