Canonical Allele Identifier: CA145269

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41256996A>C , CM000666.2:g.41256996A>C	GRCh38
NC_000004.11:g.41259013A>C , CM000666.1:g.41259013A>C	GRCh37
NC_000004.10:g.40953770A>C	NCBI36
NG_012931.1:g.5116A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004181.5:c.20A>C MANE Select	NP_004172.2:p.Glu7Ala
ENST00000284440.9:c.20A>C MANE Select	ENSP00000284440.4:p.Glu7Ala
NM_004181.4:c.20A>C	NP_004172.2:p.Glu7Ala
ENST00000284440.8:c.20A>C	ENSP00000284440.4:p.Glu7Ala
ENST00000381760.8:n.89A>C
ENST00000472501.5:n.51A>C
ENST00000503431.5:c.20A>C	ENSP00000422542.1:p.Glu7Ala
ENST00000504818.5:n.64A>C
ENST00000505232.5:c.20A>C	ENSP00000423348.1:p.Glu7Ala
ENST00000508768.5:c.20A>C	ENSP00000426895.1:p.Glu7Ala
ENST00000512419.5:c.20A>C	ENSP00000425714.1:p.Glu7Ala
ENST00000512788.1:c.20A>C	ENSP00000423623.1:p.Glu7Ala
ENST00000514924.5:c.20A>C	ENSP00000426634.1:p.Glu7Ala