Canonical Allele Identifier: CA2899965

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41260695G>A , CM000666.2:g.41260695G>A	GRCh38
NC_000004.11:g.41262712G>A , CM000666.1:g.41262712G>A	GRCh37
NC_000004.10:g.40957469G>A	NCBI36
NG_012931.1:g.8815G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004181.5:c.223G>A MANE Select	NP_004172.2:p.Val75Ile
ENST00000284440.9:c.223G>A MANE Select	ENSP00000284440.4:p.Val75Ile
NM_004181.4:c.223G>A	NP_004172.2:p.Val75Ile
ENST00000284440.8:c.223G>A	ENSP00000284440.4:p.Val75Ile
ENST00000381760.8:n.774G>A
ENST00000472501.5:n.747G>A
ENST00000503431.5:c.223G>A	ENSP00000422542.1:p.Val75Ile
ENST00000504818.5:n.490G>A
ENST00000505232.5:c.223G>A	ENSP00000423348.1:p.Val75Ile
ENST00000508768.5:c.223G>A	ENSP00000426895.1:p.Val75Ile
ENST00000512419.5:c.*12G>A	ENSP00000425714.1:n.*12G>A
ENST00000512788.1:c.223G>A	ENSP00000423623.1:p.Val75Ile
ENST00000514764.5:n.57G>A