Canonical Allele Identifier: CA2900080

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41264134C>T , CM000666.2:g.41264134C>T	GRCh38
NC_000004.11:g.41266151C>T , CM000666.1:g.41266151C>T	GRCh37
NC_000004.10:g.40960908C>T	NCBI36
NG_012931.1:g.12254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284440.9:c.558C>T MANE Select	ENSP00000284440.4:p.Gly186=
ENST00000284440.8:c.558C>T	ENSP00000284440.4:p.Gly186=
ENST00000381760.8:n.1109C>T
ENST00000472501.5:n.1082C>T
ENST00000503431.5:c.558C>T	ENSP00000422542.1:p.Gly186=
ENST00000505232.5:c.*83C>T	ENSP00000423348.1:n.*83C>T
ENST00000508768.5:c.510C>T	ENSP00000426895.1:p.Gly170=
ENST00000510566.1:n.209C>T
ENST00000512419.5:c.*347C>T	ENSP00000425714.1:n.*347C>T
ENST00000512788.1:c.558C>T	ENSP00000423623.1:p.Gly186=
ENST00000514764.5:n.392C>T
NM_004181.4:c.558C>T	NP_004172.2:p.Gly186=
NM_004181.5:c.558C>T MANE Select	NP_004172.2:p.Gly186=