Canonical Allele Identifier: CA354611205
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777122T>C , CM000665.2:g.133777122T>C GRCh38
NC_000003.11:g.133495966T>C , CM000665.1:g.133495966T>C GRCh37
NC_000003.10:g.134978656T>C NCBI36
NG_013080.1:g.35990T>C
NG_013080.2:g.120125T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1946T>C MANE Select ENSP00000385834.3:p.Leu649Pro
ENST00000402696.7:c.1946T>C ENSP00000385834.3:p.Leu649Pro
ENST00000461695.1:c.677T>C
ENST00000467842.1:n.2940T>C
NM_001063.3:c.1946T>C NP_001054.1:p.Leu649Pro
XM_011513100.1:c.1946T>C XP_011511402.1:p.Leu649Pro
NM_001354703.1:c.1814T>C NP_001341632.1:p.Leu605Pro
NM_001354704.1:c.1565T>C NP_001341633.1:p.Leu522Pro
NM_001063.4:c.1946T>C MANE Select NP_001054.2:p.Leu649Pro
NM_001354703.2:c.1814T>C NP_001341632.2:p.Leu605Pro
NM_001354704.2:c.1565T>C NP_001341633.2:p.Leu522Pro