Canonical Allele Identifier: CA354611246
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777130G>C , CM000665.2:g.133777130G>C GRCh38
NC_000003.11:g.133495974G>C , CM000665.1:g.133495974G>C GRCh37
NC_000003.10:g.134978664G>C NCBI36
NG_013080.1:g.35998G>C
NG_013080.2:g.120133G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1954G>C MANE Select ENSP00000385834.3:p.Asp652His
ENST00000402696.7:c.1954G>C ENSP00000385834.3:p.Asp652His
ENST00000461695.1:c.685G>C
ENST00000467842.1:n.2948G>C
NM_001063.3:c.1954G>C NP_001054.1:p.Asp652His
XM_011513100.1:c.1954G>C XP_011511402.1:p.Asp652His
NM_001354703.1:c.1822G>C NP_001341632.1:p.Asp608His
NM_001354704.1:c.1573G>C NP_001341633.1:p.Asp525His
NM_001063.4:c.1954G>C MANE Select NP_001054.2:p.Asp652His
NM_001354703.2:c.1822G>C NP_001341632.2:p.Asp608His
NM_001354704.2:c.1573G>C NP_001341633.2:p.Asp525His