Canonical Allele Identifier: CA354604850
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756913G>C , CM000665.2:g.133756913G>C GRCh38
NC_000003.11:g.133475757G>C , CM000665.1:g.133475757G>C GRCh37
NC_000003.10:g.134958447G>C NCBI36
NG_013080.1:g.15781G>C
NG_013080.2:g.99916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.774G>C MANE Select ENSP00000385834.3:p.Lys258Asn
ENST00000402696.7:c.774G>C ENSP00000385834.3:p.Lys258Asn
ENST00000482271.5:c.393G>C ENSP00000419338.1:p.Lys131Asn
ENST00000485977.1:c.158-19G>C ENSP00000418716.1:n.158-19G>C
NM_001063.3:c.774G>C NP_001054.1:p.Lys258Asn
XM_011513100.1:c.774G>C XP_011511402.1:p.Lys258Asn
NM_001354703.1:c.642G>C NP_001341632.1:p.Lys214Asn
NM_001354704.1:c.393G>C NP_001341633.1:p.Lys131Asn
NM_001063.4:c.774G>C MANE Select NP_001054.2:p.Lys258Asn
NM_001354703.2:c.642G>C NP_001341632.2:p.Lys214Asn
NM_001354704.2:c.393G>C NP_001341633.2:p.Lys131Asn