Canonical Allele Identifier: CA11905319

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41263977C>A , CM000666.2:g.41263977C>A	GRCh38
NC_000004.11:g.41265994C>A , CM000666.1:g.41265994C>A	GRCh37
NC_000004.10:g.40960751C>A	NCBI36
NG_012931.1:g.12097C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004181.5:c.527-126C>A MANE Select	NP_004172.2:n.527-126C>A
ENST00000284440.9:c.527-126C>A MANE Select	ENSP00000284440.4:n.527-126C>A
NM_004181.4:c.527-126C>A	NP_004172.2:n.527-126C>A
ENST00000284440.8:c.527-126C>A	ENSP00000284440.4:n.527-126C>A
ENST00000381760.8:n.1078-126C>A
ENST00000472501.5:n.1051-126C>A
ENST00000503431.5:c.527-126C>A	ENSP00000422542.1:n.527-126C>A
ENST00000505232.5:c.*52-126C>A	ENSP00000423348.1:n.*52-126C>A
ENST00000508768.5:c.479-126C>A	ENSP00000426895.1:n.479-126C>A
ENST00000510566.1:n.178-126C>A
ENST00000512419.5:c.*316-126C>A	ENSP00000425714.1:n.*316-126C>A
ENST00000512788.1:c.527-126C>A	ENSP00000423623.1:n.527-126C>A
ENST00000514764.5:n.361-126C>A