Canonical Allele Identifier: CA200407413

Gene: SET

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128690837T>G , CM000671.2:g.128690837T>G	GRCh38
NC_000009.11:g.131453116T>G , CM000671.1:g.131453116T>G	GRCh37
NC_000009.10:g.130492937T>G	NCBI36
NG_030356.1:g.12183T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003011.4:c.74-333T>G MANE Select	NP_003002.2:n.74-333T>G
ENST00000322030.13:c.74-333T>G MANE Select	ENSP00000318012.9:n.74-333T>G
NM_001122821.1:c.113-333T>G	NP_001116293.1:n.113-333T>G
NM_001122821.2:c.113-333T>G	NP_001116293.1:n.113-333T>G
NM_001248000.1:c.47-333T>G	NP_001234929.1:n.47-333T>G
NM_001248000.2:c.47-333T>G	NP_001234929.1:n.47-333T>G
NM_001248001.1:c.41-333T>G	NP_001234930.1:n.41-333T>G
NM_001248001.2:c.41-333T>G	NP_001234930.1:n.41-333T>G
NM_001374326.1:c.113-333T>G	NP_001361255.1:n.113-333T>G
NM_003011.3:c.74-333T>G	NP_003002.2:n.74-333T>G
ENST00000322030.12:c.74-333T>G	ENSP00000318012.8:n.74-333T>G
ENST00000372686.5:c.38-333T>G	ENSP00000361771.5:n.38-333T>G
ENST00000372686.6:c.41-333T>G	ENSP00000361771.6:n.41-333T>G
ENST00000372688.8:c.41-333T>G	ENSP00000361773.4:n.41-333T>G
ENST00000372688.9:c.74-333T>G	ENSP00000361773.5:n.74-333T>G
ENST00000372692.8:c.113-333T>G	ENSP00000361777.4:n.113-333T>G
ENST00000409104.7:c.47-333T>G	ENSP00000387321.3:n.47-333T>G
ENST00000466009.5:n.478+110T>G
ENST00000477806.5:n.264+293T>G
ENST00000480217.5:n.156-333T>G
ENST00000480536.2:n.484T>G
ENST00000686568.1:c.113-333T>G	ENSP00000508597.1:n.113-333T>G
ENST00000686840.1:c.113-333T>G	ENSP00000509032.1:n.113-333T>G
ENST00000691158.1:c.117-339T>G	ENSP00000509950.1:n.117-339T>G
XM_011518911.1:c.113-333T>G	XP_011517213.1:n.113-333T>G
XM_017015013.1:c.113-333T>G	XP_016870502.1:n.113-333T>G
XM_017015014.1:c.113-333T>G	XP_016870503.1:n.113-333T>G
XM_017015015.1:c.113-333T>G	XP_016870504.1:n.113-333T>G
XM_017015016.2:c.74-333T>G	XP_016870505.1:n.74-333T>G
XM_024447650.1:c.113-333T>G	XP_024303418.1:n.113-333T>G