Canonical Allele Identifier: CA354611200
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777121C>G , CM000665.2:g.133777121C>G GRCh38
NC_000003.11:g.133495965C>G , CM000665.1:g.133495965C>G GRCh37
NC_000003.10:g.134978655C>G NCBI36
NG_013080.1:g.35989C>G
NG_013080.2:g.120124C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1945C>G MANE Select ENSP00000385834.3:p.Leu649Val
ENST00000402696.7:c.1945C>G ENSP00000385834.3:p.Leu649Val
ENST00000461695.1:c.676C>G
ENST00000467842.1:n.2939C>G
NM_001063.3:c.1945C>G NP_001054.1:p.Leu649Val
XM_011513100.1:c.1945C>G XP_011511402.1:p.Leu649Val
NM_001354703.1:c.1813C>G NP_001341632.1:p.Leu605Val
NM_001354704.1:c.1564C>G NP_001341633.1:p.Leu522Val
NM_001063.4:c.1945C>G MANE Select NP_001054.2:p.Leu649Val
NM_001354703.2:c.1813C>G NP_001341632.2:p.Leu605Val
NM_001354704.2:c.1564C>G NP_001341633.2:p.Leu522Val