Canonical Allele Identifier: CA3111552434

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41260751C= , CM000666.2:g.41260751C=	GRCh38
NC_000004.11:g.41262768C= , CM000666.1:g.41262768C=	GRCh37
NC_000004.10:g.40957525C=	NCBI36
NG_012931.1:g.8871C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004181.5:c.279C= MANE Select	NP_004172.2:p.Ile93=
ENST00000284440.9:c.279C= MANE Select	ENSP00000284440.4:p.Ile93=
NM_004181.4:c.279C=	NP_004172.2:p.Ile93=
ENST00000284440.8:c.279C=	ENSP00000284440.4:p.Ile93=
ENST00000381760.8:n.830C=
ENST00000472501.5:n.803C=
ENST00000503431.5:c.279C=	ENSP00000422542.1:p.Ile93=
ENST00000504818.5:n.546C=
ENST00000505232.5:c.279C=	ENSP00000423348.1:p.Ile93=
ENST00000508768.5:c.279C=	ENSP00000426895.1:p.Ile93=
ENST00000512419.5:c.*68C=	ENSP00000425714.1:n.*68C=
ENST00000512788.1:c.279C=	ENSP00000423623.1:p.Ile93=
ENST00000514764.5:n.113C=