Canonical Allele Identifier: CA252120665

Gene: UCHL3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75562512G>A , CM000675.2:g.75562512G>A	GRCh38
NC_000013.10:g.76136648G>A , CM000675.1:g.76136648G>A	GRCh37
NC_000013.9:g.75034649G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377595.8:c.183+1631G>A MANE Select	ENSP00000366819.3:n.183+1631G>A
ENST00000377595.7:c.183+1631G>A	ENSP00000366819.3:n.183+1631G>A
ENST00000471792.6:n.329+1631G>A
ENST00000618773.4:c.75+1631G>A	ENSP00000477746.1:n.75+1631G>A
NM_001270952.1:c.75+1631G>A	NP_001257881.1:n.75+1631G>A
NM_006002.4:c.183+1631G>A	NP_005993.1:n.183+1631G>A
XM_011535212.1:c.183+1631G>A	XP_011533514.1:n.183+1631G>A
XM_011535213.1:c.171+1631G>A	XP_011533515.1:n.171+1631G>A
XM_011535214.1:c.75+1631G>A	XP_011533516.1:n.75+1631G>A
XM_011535213.2:c.171+1631G>A	XP_011533515.1:n.171+1631G>A
XM_011535214.2:c.75+1631G>A	XP_011533516.1:n.75+1631G>A
XM_017020725.1:c.183+1631G>A	XP_016876214.1:n.183+1631G>A
XM_017020726.1:c.183+1631G>A	XP_016876215.1:n.183+1631G>A
XM_017020727.1:c.171+1631G>A	XP_016876216.1:n.171+1631G>A
NM_001270952.2:c.75+1631G>A	NP_001257881.1:n.75+1631G>A
NM_006002.5:c.183+1631G>A MANE Select	NP_005993.1:n.183+1631G>A