Canonical Allele Identifier: CA2580589018
Community Standard Title: NM_004181.5(UCHL1):c.53C= (p.Ser18=)
Gene: UCHL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41257616C= , CM000666.2:g.41257616C= GRCh38
NC_000004.11:g.41259633C= , CM000666.1:g.41259633C= GRCh37
NC_000004.10:g.40954390C= NCBI36
NG_012931.1:g.5736C=

Transcript Alleles

HGVS Amino-acid Change
NM_004181.5:c.53C= MANE Select NP_004172.2:p.Ser18=
ENST00000284440.9:c.53C= MANE Select ENSP00000284440.4:p.Ser18=
NM_004181.4:c.53C= NP_004172.2:p.Ser18=
ENST00000284440.8:c.53C= ENSP00000284440.4:p.Ser18=
ENST00000381760.8:n.604C=
ENST00000472501.5:n.577C=
ENST00000503431.5:c.53C= ENSP00000422542.1:p.Ser18=
ENST00000504818.5:n.320C=
ENST00000505232.5:c.53C= ENSP00000423348.1:p.Ser18=
ENST00000508768.5:c.53C= ENSP00000426895.1:p.Ser18=
ENST00000512419.5:c.52C= ENSP00000425714.1:p.Pro18=
ENST00000512788.1:c.53C= ENSP00000423623.1:p.Ser18=
ENST00000514924.5:c.53C= ENSP00000426634.1:p.Ser18=