Canonical Allele Identifier: CA11722389
Gene: UCHL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41266448G>A , CM000666.2:g.41266448G>A GRCh38
NC_000004.11:g.41268465G>A , CM000666.1:g.41268465G>A GRCh37
NC_000004.10:g.40963222G>A NCBI36
NG_012931.1:g.14568G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284440.9:c.586-1539G>A MANE Select ENSP00000284440.4:n.586-1539G>A
ENST00000284440.8:c.586-1539G>A ENSP00000284440.4:n.586-1539G>A
ENST00000381760.8:n.1137-1539G>A
ENST00000472501.5:n.1110-1539G>A
ENST00000503431.5:c.586-1539G>A ENSP00000422542.1:n.586-1539G>A
ENST00000505232.5:c.*111-1539G>A ENSP00000423348.1:n.*111-1539G>A
ENST00000508768.5:c.538-1539G>A ENSP00000426895.1:n.538-1539G>A
ENST00000512419.5:c.*375-1539G>A ENSP00000425714.1:n.*375-1539G>A
ENST00000512788.1:c.615-1539G>A ENSP00000423623.1:n.615-1539G>A
ENST00000514764.5:n.420-1539G>A
NM_004181.4:c.586-1539G>A NP_004172.2:n.586-1539G>A
NM_004181.5:c.586-1539G>A MANE Select NP_004172.2:n.586-1539G>A
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