Canonical Allele Identifier: CA8023714

Gene: FUS

Linked Data

• dbSNP Id: rs752293264
• ExAC: 16:31196318 T / C
• gnomAD v2: 16-31196318-T-C
• gnomAD v4: 16-31184997-T-C
• MyVariant Identifiers: chr16:g.31196318T>C (hg19) ; chr16:g.31184997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31184997T>C , CM000678.2:g.31184997T>C	GRCh38
NC_000016.9:g.31196318T>C , CM000678.1:g.31196318T>C	GRCh37
NC_000016.8:g.31103819T>C	NCBI36
NG_012889.2:g.9866T>C , LRG_655:g.9866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.582T>C MANE Select	ENSP00000254108.8:p.Tyr194=
ENST00000254108.11:c.582T>C	ENSP00000254108.7:p.Tyr194=
ENST00000380244.7:c.579T>C	ENSP00000369594.3:p.Tyr193=
ENST00000487509.6:n.647T>C
ENST00000566605.5:c.582T>C	ENSP00000455073.1:p.Tyr194=
ENST00000568685.1:c.582T>C	ENSP00000455282.1:p.Tyr194=
NM_001170634.1:c.579T>C	NP_001164105.1:p.Tyr193=
NM_001170937.1:c.570T>C	NP_001164408.1:p.Tyr190=
NM_004960.3:c.582T>C , LRG_655t1:c.582T>C	NP_004951.1:p.Tyr194=
NR_028388.2:n.687T>C
XM_005255233.3:c.2T>C	XP_005255290.1:p.Met1Thr
XM_011545781.1:c.576T>C	XP_011544083.1:p.Tyr192=
XM_011545782.1:c.2T>C	XP_011544084.1:p.Met1Thr
XM_005255233.5:c.2T>C	XP_005255290.1:p.Met1Thr
XM_011545782.2:c.2T>C	XP_011544084.1:p.Met1Thr
XM_024450221.1:c.573T>C	XP_024305989.1:p.Tyr191=
NM_004960.4:c.582T>C MANE Select	NP_004951.1:p.Tyr194=