Canonical Allele Identifier: CA2705517344

Gene: UCHL1

Linked Data

• dbSNP Id: rs1781183713

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41268112C>T , CM000666.2:g.41268112C>T	GRCh38
NC_000004.11:g.41270129C>T , CM000666.1:g.41270129C>T	GRCh37
NC_000004.10:g.40964886C>T	NCBI36
NG_012931.1:g.16232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284440.9:c.*39C>T MANE Select	ENSP00000284440.4:n.*39C>T
ENST00000284440.8:c.*39C>T	ENSP00000284440.4:n.*39C>T
ENST00000381760.8:n.1262C>T
ENST00000472501.5:n.1235C>T
ENST00000503431.5:c.*39C>T	ENSP00000422542.1:n.*39C>T
ENST00000508768.5:c.*39C>T	ENSP00000426895.1:n.*39C>T
ENST00000512419.5:c.*500C>T	ENSP00000425714.1:n.*500C>T
ENST00000512788.1:c.*14C>T	ENSP00000423623.1:n.*14C>T
ENST00000514764.5:n.545C>T
NM_004181.4:c.*39C>T	NP_004172.2:n.*39C>T
NM_004181.5:c.*39C>T MANE Select	NP_004172.2:n.*39C>T