Canonical Allele Identifier: CA354610539
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775592T>C , CM000665.2:g.133775592T>C GRCh38
NC_000003.11:g.133494436T>C , CM000665.1:g.133494436T>C GRCh37
NC_000003.10:g.134977126T>C NCBI36
NG_013080.1:g.34460T>C
NG_013080.2:g.118595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1847T>C MANE Select ENSP00000385834.3:p.Val616Ala
ENST00000402696.7:c.1847T>C ENSP00000385834.3:p.Val616Ala
ENST00000461695.1:c.578T>C
ENST00000467842.1:n.2841T>C
NM_001063.3:c.1847T>C NP_001054.1:p.Val616Ala
XM_011513100.1:c.1847T>C XP_011511402.1:p.Val616Ala
NM_001354703.1:c.1715T>C NP_001341632.1:p.Val572Ala
NM_001354704.1:c.1466T>C NP_001341633.1:p.Val489Ala
NM_001063.4:c.1847T>C MANE Select NP_001054.2:p.Val616Ala
NM_001354703.2:c.1715T>C NP_001341632.2:p.Val572Ala
NM_001354704.2:c.1466T>C NP_001341633.2:p.Val489Ala