Canonical Allele Identifier: CA2216948372
Community Standard Title: NM_004960.4(FUS):c.1551C= (p.His517=)
Gene: FUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31191408C= , CM000678.2:g.31191408C= GRCh38
NC_000016.9:g.31202729C= , CM000678.1:g.31202729C= GRCh37
NC_000016.8:g.31110230C= NCBI36
NG_012889.2:g.16277C= , LRG_655:g.16277C=

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.1551C= MANE Select NP_004951.1:p.His517=
ENST00000254108.12:c.1551C= MANE Select ENSP00000254108.8:p.His517=
NM_001170634.1:c.1548C= NP_001164105.1:p.His516=
NM_001170937.1:c.1539C= NP_001164408.1:p.His513=
NM_004960.3:c.1551C= , LRG_655t1:c.1551C= NP_004951.1:p.His517=
NR_028388.2:n.1621C=
ENST00000254108.11:c.1551C= ENSP00000254108.7:p.His517=
ENST00000380244.7:c.1548C= ENSP00000369594.3:p.His516=
ENST00000483853.1:n.628C=
ENST00000487509.6:n.4726C=
ENST00000566605.5:c.*724C= ENSP00000455073.1:n.*724C=
ENST00000568685.1:c.1554C= ENSP00000455282.1:p.His518=
ENST00000569760.5:n.442C=
XM_005255233.3:c.936C= XP_005255290.1:p.His312=
XM_005255233.5:c.936C= XP_005255290.1:p.His312=
XM_011545781.1:c.1545C= XP_011544083.1:p.His515=
XM_011545782.1:c.936C= XP_011544084.1:p.His312=
XM_011545782.2:c.936C= XP_011544084.1:p.His312=
XM_024450221.1:c.1542C= XP_024305989.1:p.His514=