Canonical Allele Identifier: CA354610217
Gene: TF HGNC NCBI

Linked Data

dbSNP Id: rs1484015826

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775469A>C , CM000665.2:g.133775469A>C GRCh38
NC_000003.11:g.133494313A>C , CM000665.1:g.133494313A>C GRCh37
NC_000003.10:g.134977003A>C NCBI36
NG_013080.1:g.34337A>C
NG_013080.2:g.118472A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1724A>C MANE Select ENSP00000385834.3:p.Glu575Ala
ENST00000402696.7:c.1724A>C ENSP00000385834.3:p.Glu575Ala
ENST00000461695.1:c.455A>C
ENST00000467842.1:n.2718A>C
NM_001063.3:c.1724A>C NP_001054.1:p.Glu575Ala
XM_011513100.1:c.1724A>C XP_011511402.1:p.Glu575Ala
NM_001354703.1:c.1592A>C NP_001341632.1:p.Glu531Ala
NM_001354704.1:c.1343A>C NP_001341633.1:p.Glu448Ala
NM_001063.4:c.1724A>C MANE Select NP_001054.2:p.Glu575Ala
NM_001354703.2:c.1592A>C NP_001341632.2:p.Glu531Ala
NM_001354704.2:c.1343A>C NP_001341633.2:p.Glu448Ala