Canonical Allele Identifier: CA354610508
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775579A>C , CM000665.2:g.133775579A>C GRCh38
NC_000003.11:g.133494423A>C , CM000665.1:g.133494423A>C GRCh37
NC_000003.10:g.134977113A>C NCBI36
NG_013080.1:g.34447A>C
NG_013080.2:g.118582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1834A>C MANE Select ENSP00000385834.3:p.Lys612Gln
ENST00000402696.7:c.1834A>C ENSP00000385834.3:p.Lys612Gln
ENST00000461695.1:c.565A>C
ENST00000467842.1:n.2828A>C
NM_001063.3:c.1834A>C NP_001054.1:p.Lys612Gln
XM_011513100.1:c.1834A>C XP_011511402.1:p.Lys612Gln
NM_001354703.1:c.1702A>C NP_001341632.1:p.Lys568Gln
NM_001354704.1:c.1453A>C NP_001341633.1:p.Lys485Gln
NM_001063.4:c.1834A>C MANE Select NP_001054.2:p.Lys612Gln
NM_001354703.2:c.1702A>C NP_001341632.2:p.Lys568Gln
NM_001354704.2:c.1453A>C NP_001341633.2:p.Lys485Gln