Canonical Allele Identifier: CA354610197
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775465A>C , CM000665.2:g.133775465A>C GRCh38
NC_000003.11:g.133494309A>C , CM000665.1:g.133494309A>C GRCh37
NC_000003.10:g.134976999A>C NCBI36
NG_013080.1:g.34333A>C
NG_013080.2:g.118468A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1720A>C MANE Select ENSP00000385834.3:p.Asn574His
ENST00000402696.7:c.1720A>C ENSP00000385834.3:p.Asn574His
ENST00000461695.1:c.451A>C
ENST00000467842.1:n.2714A>C
NM_001063.3:c.1720A>C NP_001054.1:p.Asn574His
XM_011513100.1:c.1720A>C XP_011511402.1:p.Asn574His
NM_001354703.1:c.1588A>C NP_001341632.1:p.Asn530His
NM_001354704.1:c.1339A>C NP_001341633.1:p.Asn447His
NM_001063.4:c.1720A>C MANE Select NP_001054.2:p.Asn574His
NM_001354703.2:c.1588A>C NP_001341632.2:p.Asn530His
NM_001354704.2:c.1339A>C NP_001341633.2:p.Asn447His