Canonical Allele Identifier: CA8024021
Community Standard Title: NM_004960.4(FUS):c.1317T>C (p.Ser439=)
Gene: FUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31190766T>C , CM000678.2:g.31190766T>C GRCh38
NC_000016.9:g.31202087T>C , CM000678.1:g.31202087T>C GRCh37
NC_000016.8:g.31109588T>C NCBI36
NG_012889.2:g.15635T>C , LRG_655:g.15635T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.1317T>C MANE Select NP_004951.1:p.Ser439=
ENST00000254108.12:c.1317T>C MANE Select ENSP00000254108.8:p.Ser439=
NM_001170634.1:c.1314T>C NP_001164105.1:p.Ser438=
NM_001170937.1:c.1305T>C NP_001164408.1:p.Ser435=
NM_004960.3:c.1317T>C , LRG_655t1:c.1317T>C NP_004951.1:p.Ser439=
NR_028388.2:n.1387T>C
ENST00000254108.11:c.1317T>C ENSP00000254108.7:p.Ser439=
ENST00000380244.7:c.1314T>C ENSP00000369594.3:p.Ser438=
ENST00000474990.5:n.611T>C
ENST00000483853.1:n.394T>C
ENST00000487509.6:n.4492T>C
ENST00000566605.5:c.*490T>C ENSP00000455073.1:n.*490T>C
ENST00000568685.1:c.1320T>C ENSP00000455282.1:p.Ser440=
ENST00000569760.5:n.208T>C
XM_005255233.3:c.702T>C XP_005255290.1:p.Ser234=
XM_005255233.5:c.702T>C XP_005255290.1:p.Ser234=
XM_011545781.1:c.1311T>C XP_011544083.1:p.Ser437=
XM_011545782.1:c.702T>C XP_011544084.1:p.Ser234=
XM_011545782.2:c.702T>C XP_011544084.1:p.Ser234=
XM_024450221.1:c.1308T>C XP_024305989.1:p.Ser436=