Canonical Allele Identifier: CA916083070
Gene: SET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128693813G>C , CM000671.2:g.128693813G>C GRCh38
NC_000009.11:g.131456092G>C , CM000671.1:g.131456092G>C GRCh37
NC_000009.10:g.130495913G>C NCBI36
NG_030356.1:g.15159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372686.6:c.630+5G>C ENSP00000361771.6:n.630+5G>C
ENST00000372688.9:c.663+5G>C ENSP00000361773.5:n.663+5G>C
ENST00000480536.2:n.1406+5G>C
ENST00000685073.1:n.1149+5G>C
ENST00000686568.1:c.532-83G>C ENSP00000508597.1:n.532-83G>C
ENST00000686840.1:c.702+5G>C ENSP00000509032.1:n.702+5G>C
ENST00000691158.1:c.*565+5G>C ENSP00000509950.1:n.*565+5G>C
ENST00000322030.13:c.663+5G>C MANE Select ENSP00000318012.9:n.663+5G>C
ENST00000322030.12:c.663+5G>C ENSP00000318012.8:n.663+5G>C
ENST00000372686.5:c.627+5G>C ENSP00000361771.5:n.627+5G>C
ENST00000372688.8:c.630+5G>C ENSP00000361773.4:n.630+5G>C
ENST00000372692.8:c.702+5G>C ENSP00000361777.4:n.702+5G>C
ENST00000409104.7:c.636+5G>C ENSP00000387321.3:n.636+5G>C
ENST00000477806.5:n.854+5G>C
NM_001122821.1:c.702+5G>C NP_001116293.1:n.702+5G>C
NM_001248000.1:c.636+5G>C NP_001234929.1:n.636+5G>C
NM_001248001.1:c.630+5G>C NP_001234930.1:n.630+5G>C
NM_003011.3:c.663+5G>C NP_003002.2:n.663+5G>C
XM_011518911.1:c.702+5G>C XP_011517213.1:n.702+5G>C
XM_017015013.1:c.702+5G>C XP_016870502.1:n.702+5G>C
XM_017015014.1:c.702+5G>C XP_016870503.1:n.702+5G>C
XM_017015015.1:c.702+5G>C XP_016870504.1:n.702+5G>C
XM_017015016.2:c.663+5G>C XP_016870505.1:n.663+5G>C
XM_024447650.1:c.702+5G>C XP_024303418.1:n.702+5G>C
NM_001122821.2:c.702+5G>C NP_001116293.1:n.702+5G>C
NM_001248000.2:c.636+5G>C NP_001234929.1:n.636+5G>C
NM_001248001.2:c.630+5G>C NP_001234930.1:n.630+5G>C
NM_001374326.1:c.702+5G>C NP_001361255.1:n.702+5G>C
NM_003011.4:c.663+5G>C MANE Select NP_003002.2:n.663+5G>C