Canonical Allele Identifier: CA395666685
Community Standard Title: NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
Gene: FUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31183920C>T , CM000678.2:g.31183920C>T GRCh38
NC_000016.9:g.31195241C>T , CM000678.1:g.31195241C>T GRCh37
NC_000016.8:g.31102742C>T NCBI36
NG_012889.2:g.8789C>T , LRG_655:g.8789C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.253C>T MANE Select NP_004951.1:p.Gln85Ter
ENST00000254108.12:c.253C>T MANE Select ENSP00000254108.8:p.Gln85Ter
NM_001170634.1:c.250C>T NP_001164105.1:p.Gln84Ter
NM_001170937.1:c.253C>T NP_001164408.1:p.Gln85Ter
NM_004960.3:c.253C>T , LRG_655t1:c.253C>T NP_004951.1:p.Gln85Ter
NR_028388.2:n.358C>T
ENST00000254108.11:c.253C>T ENSP00000254108.7:p.Gln85Ter
ENST00000380244.7:c.250C>T ENSP00000369594.3:p.Gln84Ter
ENST00000487509.6:n.318C>T
ENST00000487974.1:n.371C>T
ENST00000566605.5:c.253C>T ENSP00000455073.1:p.Gln85Ter
ENST00000568685.1:c.253C>T ENSP00000455282.1:p.Gln85Ter
XM_005255233.3:c.-328C>T XP_005255290.1:n.-328C>T
XM_005255233.5:c.-328C>T XP_005255290.1:n.-328C>T
XM_011545781.1:c.253C>T XP_011544083.1:p.Gln85Ter
XM_024450221.1:c.250C>T XP_024305989.1:p.Gln84Ter