Canonical Allele Identifier: CA354604942
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756960G>T , CM000665.2:g.133756960G>T GRCh38
NC_000003.11:g.133475804G>T , CM000665.1:g.133475804G>T GRCh37
NC_000003.10:g.134958494G>T NCBI36
NG_013080.1:g.15828G>T
NG_013080.2:g.99963G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.821G>T MANE Select ENSP00000385834.3:p.Ser274Ile
ENST00000402696.7:c.821G>T ENSP00000385834.3:p.Ser274Ile
ENST00000485977.1:c.186G>T ENSP00000418716.1:p.Lys62Asn
NM_001063.3:c.821G>T NP_001054.1:p.Ser274Ile
XM_011513100.1:c.821G>T XP_011511402.1:p.Ser274Ile
NM_001354703.1:c.689G>T NP_001341632.1:p.Ser230Ile
NM_001354704.1:c.440G>T NP_001341633.1:p.Ser147Ile
NM_001063.4:c.821G>T MANE Select NP_001054.2:p.Ser274Ile
NM_001354703.2:c.689G>T NP_001341632.2:p.Ser230Ile
NM_001354704.2:c.440G>T NP_001341633.2:p.Ser147Ile