Canonical Allele Identifier: CA354608739
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766385A>C , CM000665.2:g.133766385A>C GRCh38
NC_000003.11:g.133485229A>C , CM000665.1:g.133485229A>C GRCh37
NC_000003.10:g.134967919A>C NCBI36
NG_013080.1:g.25253A>C
NG_013080.2:g.109388A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1438A>C MANE Select ENSP00000385834.3:p.Asn480His
ENST00000402696.7:c.1438A>C ENSP00000385834.3:p.Asn480His
ENST00000461695.1:c.108A>C
NM_001063.3:c.1438A>C NP_001054.1:p.Asn480His
XM_011513100.1:c.1438A>C XP_011511402.1:p.Asn480His
NM_001354703.1:c.1306A>C NP_001341632.1:p.Asn436His
NM_001354704.1:c.1057A>C NP_001341633.1:p.Asn353His
NM_001063.4:c.1438A>C MANE Select NP_001054.2:p.Asn480His
NM_001354703.2:c.1306A>C NP_001341632.2:p.Asn436His
NM_001354704.2:c.1057A>C NP_001341633.2:p.Asn353His