Canonical Allele Identifier: CA256260

Gene: UCHL1

Linked Data

• ClinVar Variation Id: 12298
• ClinVar RCV Id: RCV000013092 ; RCV001711069 ; RCV002243640
• dbSNP Id: rs5030732
• ExAC: 4:41259633 C / A
• gnomAD v2: 4-41259633-C-A
• gnomAD v3: 4-41257616-C-A
• gnomAD v4: 4-41257616-C-A
• MyVariant Identifiers: chr4:g.41259633C>A (hg19) ; chr4:g.41257616C>A (hg38)
• PubMed: PMID:10203348 ; PMID:10563640 ; PMID:12408865 ; PMID:15048890 ; PMID:16450370 ; PMID:18411255 ; PMID:19864305 ; PMID:21268678 ; PMID:22839974

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41257616C>A , CM000666.2:g.41257616C>A	GRCh38
NC_000004.11:g.41259633C>A , CM000666.1:g.41259633C>A	GRCh37
NC_000004.10:g.40954390C>A	NCBI36
NG_012931.1:g.5736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284440.9:c.53C>A MANE Select	ENSP00000284440.4:p.Ser18Tyr
ENST00000284440.8:c.53C>A	ENSP00000284440.4:p.Ser18Tyr
ENST00000381760.8:n.604C>A
ENST00000472501.5:n.577C>A
ENST00000503431.5:c.53C>A	ENSP00000422542.1:p.Ser18Tyr
ENST00000504818.5:n.320C>A
ENST00000505232.5:c.53C>A	ENSP00000423348.1:p.Ser18Tyr
ENST00000508768.5:c.53C>A	ENSP00000426895.1:p.Ser18Tyr
ENST00000512419.5:c.52C>A	ENSP00000425714.1:p.Pro18Thr
ENST00000512788.1:c.53C>A	ENSP00000423623.1:p.Ser18Tyr
ENST00000514924.5:c.53C>A	ENSP00000426634.1:p.Ser18Tyr
NM_004181.4:c.53C>A	NP_004172.2:p.Ser18Tyr
NM_004181.5:c.53C>A MANE Select	NP_004172.2:p.Ser18Tyr