Canonical Allele Identifier: CA354611162
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777114G>C , CM000665.2:g.133777114G>C GRCh38
NC_000003.11:g.133495958G>C , CM000665.1:g.133495958G>C GRCh37
NC_000003.10:g.134978648G>C NCBI36
NG_013080.1:g.35982G>C
NG_013080.2:g.120117G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1938G>C MANE Select ENSP00000385834.3:p.Lys646Asn
ENST00000402696.7:c.1938G>C ENSP00000385834.3:p.Lys646Asn
ENST00000461695.1:c.669G>C
ENST00000467842.1:n.2932G>C
NM_001063.3:c.1938G>C NP_001054.1:p.Lys646Asn
XM_011513100.1:c.1938G>C XP_011511402.1:p.Lys646Asn
NM_001354703.1:c.1806G>C NP_001341632.1:p.Lys602Asn
NM_001354704.1:c.1557G>C NP_001341633.1:p.Lys519Asn
NM_001063.4:c.1938G>C MANE Select NP_001054.2:p.Lys646Asn
NM_001354703.2:c.1806G>C NP_001341632.2:p.Lys602Asn
NM_001354704.2:c.1557G>C NP_001341633.2:p.Lys519Asn