Canonical Allele Identifier: CA375056858
Gene: SET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128683905A>G , CM000671.2:g.128683905A>G GRCh38
NC_000009.11:g.131446184A>G , CM000671.1:g.131446184A>G GRCh37
NC_000009.10:g.130486005A>G NCBI36
NG_030356.1:g.5251A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001122821.1:c.10A>G NP_001116293.1:p.Lys4Glu
NM_001122821.2:c.10A>G NP_001116293.1:p.Lys4Glu
NM_001374326.1:c.10A>G NP_001361255.1:p.Lys4Glu
ENST00000372692.8:c.10A>G ENSP00000361777.4:p.Lys4Glu
ENST00000454747.1:c.10A>G ENSP00000410806.1:p.Lys4Glu
ENST00000686568.1:c.10A>G ENSP00000508597.1:p.Lys4Glu
ENST00000686840.1:c.10A>G ENSP00000509032.1:p.Lys4Glu
ENST00000691158.1:c.10A>G ENSP00000509950.1:p.Lys4Glu
XM_011518911.1:c.10A>G XP_011517213.1:p.Lys4Glu
XM_017015013.1:c.10A>G XP_016870502.1:p.Lys4Glu
XM_017015014.1:c.10A>G XP_016870503.1:p.Lys4Glu
XM_017015015.1:c.10A>G XP_016870504.1:p.Lys4Glu
XM_024447650.1:c.10A>G XP_024303418.1:p.Lys4Glu
XR_930378.1:n.1412+461T>C
XR_930378.2:n.1439+461T>C