Canonical Allele Identifier: CA354604946
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756962A>C , CM000665.2:g.133756962A>C GRCh38
NC_000003.11:g.133475806A>C , CM000665.1:g.133475806A>C GRCh37
NC_000003.10:g.134958496A>C NCBI36
NG_013080.1:g.15830A>C
NG_013080.2:g.99965A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.823A>C MANE Select ENSP00000385834.3:p.Met275Leu
ENST00000402696.7:c.823A>C ENSP00000385834.3:p.Met275Leu
ENST00000485977.1:c.188A>C ENSP00000418716.1:p.Tyr63Ser
NM_001063.3:c.823A>C NP_001054.1:p.Met275Leu
XM_011513100.1:c.823A>C XP_011511402.1:p.Met275Leu
NM_001354703.1:c.691A>C NP_001341632.1:p.Met231Leu
NM_001354704.1:c.442A>C NP_001341633.1:p.Met148Leu
NM_001063.4:c.823A>C MANE Select NP_001054.2:p.Met275Leu
NM_001354703.2:c.691A>C NP_001341632.2:p.Met231Leu
NM_001354704.2:c.442A>C NP_001341633.2:p.Met148Leu