Canonical Allele Identifier: CA354610513
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775581G>T , CM000665.2:g.133775581G>T GRCh38
NC_000003.11:g.133494425G>T , CM000665.1:g.133494425G>T GRCh37
NC_000003.10:g.134977115G>T NCBI36
NG_013080.1:g.34449G>T
NG_013080.2:g.118584G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1836G>T MANE Select ENSP00000385834.3:p.Lys612Asn
ENST00000402696.7:c.1836G>T ENSP00000385834.3:p.Lys612Asn
ENST00000461695.1:c.567G>T
ENST00000467842.1:n.2830G>T
NM_001063.3:c.1836G>T NP_001054.1:p.Lys612Asn
XM_011513100.1:c.1836G>T XP_011511402.1:p.Lys612Asn
NM_001354703.1:c.1704G>T NP_001341632.1:p.Lys568Asn
NM_001354704.1:c.1455G>T NP_001341633.1:p.Lys485Asn
NM_001063.4:c.1836G>T MANE Select NP_001054.2:p.Lys612Asn
NM_001354703.2:c.1704G>T NP_001341632.2:p.Lys568Asn
NM_001354704.2:c.1455G>T NP_001341633.2:p.Lys485Asn