Canonical Allele Identifier: CA354608752
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766389T>G , CM000665.2:g.133766389T>G GRCh38
NC_000003.11:g.133485233T>G , CM000665.1:g.133485233T>G GRCh37
NC_000003.10:g.134967923T>G NCBI36
NG_013080.1:g.25257T>G
NG_013080.2:g.109392T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1442T>G MANE Select ENSP00000385834.3:p.Ile481Ser
ENST00000402696.7:c.1442T>G ENSP00000385834.3:p.Ile481Ser
ENST00000461695.1:c.112T>G
NM_001063.3:c.1442T>G NP_001054.1:p.Ile481Ser
XM_011513100.1:c.1442T>G XP_011511402.1:p.Ile481Ser
NM_001354703.1:c.1310T>G NP_001341632.1:p.Ile437Ser
NM_001354704.1:c.1061T>G NP_001341633.1:p.Ile354Ser
NM_001063.4:c.1442T>G MANE Select NP_001054.2:p.Ile481Ser
NM_001354703.2:c.1310T>G NP_001341632.2:p.Ile437Ser
NM_001354704.2:c.1061T>G NP_001341633.2:p.Ile354Ser