Canonical Allele Identifier: CA354611207
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1946T>A MANE Select ENSP00000385834.3:p.Leu649Gln
ENST00000402696.7:c.1946T>A ENSP00000385834.3:p.Leu649Gln
ENST00000461695.1:c.677T>A
ENST00000467842.1:n.2940T>A
NM_001063.3:c.1946T>A NP_001054.1:p.Leu649Gln
XM_011513100.1:c.1946T>A XP_011511402.1:p.Leu649Gln
NM_001354703.1:c.1814T>A NP_001341632.1:p.Leu605Gln
NM_001354704.1:c.1565T>A NP_001341633.1:p.Leu522Gln
NM_001063.4:c.1946T>A MANE Select NP_001054.2:p.Leu649Gln
NM_001354703.2:c.1814T>A NP_001341632.2:p.Leu605Gln
NM_001354704.2:c.1565T>A NP_001341633.2:p.Leu522Gln