Canonical Allele Identifier: CA354604785
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756882A>G , CM000665.2:g.133756882A>G GRCh38
NC_000003.11:g.133475726A>G , CM000665.1:g.133475726A>G GRCh37
NC_000003.10:g.134958416A>G NCBI36
NG_013080.1:g.15750A>G
NG_013080.2:g.99885A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.743A>G MANE Select ENSP00000385834.3:p.Asp248Gly
ENST00000402696.7:c.743A>G ENSP00000385834.3:p.Asp248Gly
ENST00000482271.5:c.362A>G ENSP00000419338.1:p.Asp121Gly
ENST00000485977.1:c.158-50A>G ENSP00000418716.1:n.158-50A>G
NM_001063.3:c.743A>G NP_001054.1:p.Asp248Gly
XM_011513100.1:c.743A>G XP_011511402.1:p.Asp248Gly
NM_001354703.1:c.611A>G NP_001341632.1:p.Asp204Gly
NM_001354704.1:c.362A>G NP_001341633.1:p.Asp121Gly
NM_001063.4:c.743A>G MANE Select NP_001054.2:p.Asp248Gly
NM_001354703.2:c.611A>G NP_001341632.2:p.Asp204Gly
NM_001354704.2:c.362A>G NP_001341633.2:p.Asp121Gly