Canonical Allele Identifier: CA354605020
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756993T>C , CM000665.2:g.133756993T>C GRCh38
NC_000003.11:g.133475837T>C , CM000665.1:g.133475837T>C GRCh37
NC_000003.10:g.134958527T>C NCBI36
NG_013080.1:g.15861T>C
NG_013080.2:g.99996T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.854T>C MANE Select ENSP00000385834.3:p.Leu285Pro
ENST00000402696.7:c.854T>C ENSP00000385834.3:p.Leu285Pro
ENST00000485977.1:c.219T>C ENSP00000418716.1:p.Ala73=
NM_001063.3:c.854T>C NP_001054.1:p.Leu285Pro
XM_011513100.1:c.854T>C XP_011511402.1:p.Leu285Pro
NM_001354703.1:c.722T>C NP_001341632.1:p.Leu241Pro
NM_001354704.1:c.473T>C NP_001341633.1:p.Leu158Pro
NM_001063.4:c.854T>C MANE Select NP_001054.2:p.Leu285Pro
NM_001354703.2:c.722T>C NP_001341632.2:p.Leu241Pro
NM_001354704.2:c.473T>C NP_001341633.2:p.Leu158Pro