Canonical Allele Identifier: CA354604809
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756895G>T , CM000665.2:g.133756895G>T GRCh38
NC_000003.11:g.133475739G>T , CM000665.1:g.133475739G>T GRCh37
NC_000003.10:g.134958429G>T NCBI36
NG_013080.1:g.15763G>T
NG_013080.2:g.99898G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.756G>T MANE Select ENSP00000385834.3:p.Lys252Asn
ENST00000402696.7:c.756G>T ENSP00000385834.3:p.Lys252Asn
ENST00000482271.5:c.375G>T ENSP00000419338.1:p.Lys125Asn
ENST00000485977.1:c.158-37G>T ENSP00000418716.1:n.158-37G>T
NM_001063.3:c.756G>T NP_001054.1:p.Lys252Asn
XM_011513100.1:c.756G>T XP_011511402.1:p.Lys252Asn
NM_001354703.1:c.624G>T NP_001341632.1:p.Lys208Asn
NM_001354704.1:c.375G>T NP_001341633.1:p.Lys125Asn
NM_001063.4:c.756G>T MANE Select NP_001054.2:p.Lys252Asn
NM_001354703.2:c.624G>T NP_001341632.2:p.Lys208Asn
NM_001354704.2:c.375G>T NP_001341633.2:p.Lys125Asn