Canonical Allele Identifier: CA494928716

Gene: FUS

Linked Data

• gnomAD v4: 16-31185015-T-C
• MyVariant Identifiers: chr16:g.31196336T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31185015T>C , CM000678.2:g.31185015T>C	GRCh38
NC_000016.9:g.31196336T>C , CM000678.1:g.31196336T>C	GRCh37
NC_000016.8:g.31103837T>C	NCBI36
NG_012889.2:g.9884T>C , LRG_655:g.9884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.600T>C MANE Select	ENSP00000254108.8:p.Ser200=
ENST00000254108.11:c.600T>C	ENSP00000254108.7:p.Ser200=
ENST00000380244.7:c.597T>C	ENSP00000369594.3:p.Ser199=
ENST00000487509.6:n.665T>C
ENST00000566605.5:c.600T>C	ENSP00000455073.1:p.Ser200=
ENST00000568685.1:c.600T>C	ENSP00000455282.1:p.Ser200=
NM_001170634.1:c.597T>C	NP_001164105.1:p.Ser199=
NM_001170937.1:c.588T>C	NP_001164408.1:p.Ser196=
NM_004960.3:c.600T>C , LRG_655t1:c.600T>C	NP_004951.1:p.Ser200=
NR_028388.2:n.705T>C
XM_005255233.3:c.20T>C	XP_005255290.1:p.Val7Ala
XM_011545781.1:c.594T>C	XP_011544083.1:p.Ser198=
XM_011545782.1:c.20T>C	XP_011544084.1:p.Val7Ala
XM_005255233.5:c.20T>C	XP_005255290.1:p.Val7Ala
XM_011545782.2:c.20T>C	XP_011544084.1:p.Val7Ala
XM_024450221.1:c.591T>C	XP_024305989.1:p.Ser197=
NM_004960.4:c.600T>C MANE Select	NP_004951.1:p.Ser200=