Canonical Allele Identifier: CA354610316
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775492C>A , CM000665.2:g.133775492C>A GRCh38
NC_000003.11:g.133494336C>A , CM000665.1:g.133494336C>A GRCh37
NC_000003.10:g.134977026C>A NCBI36
NG_013080.1:g.34360C>A
NG_013080.2:g.118495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1747C>A MANE Select ENSP00000385834.3:p.Leu583Ile
ENST00000402696.7:c.1747C>A ENSP00000385834.3:p.Leu583Ile
ENST00000461695.1:c.478C>A
ENST00000467842.1:n.2741C>A
NM_001063.3:c.1747C>A NP_001054.1:p.Leu583Ile
XM_011513100.1:c.1747C>A XP_011511402.1:p.Leu583Ile
NM_001354703.1:c.1615C>A NP_001341632.1:p.Leu539Ile
NM_001354704.1:c.1366C>A NP_001341633.1:p.Leu456Ile
NM_001063.4:c.1747C>A MANE Select NP_001054.2:p.Leu583Ile
NM_001354703.2:c.1615C>A NP_001341632.2:p.Leu539Ile
NM_001354704.2:c.1366C>A NP_001341633.2:p.Leu456Ile