Canonical Allele Identifier: CA386454943

Gene: USP30

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109072345C>A , CM000674.2:g.109072345C>A	GRCh38
NC_000012.11:g.109510150C>A , CM000674.1:g.109510150C>A	GRCh37
NC_000012.10:g.107994533C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257548.10:c.620C>A MANE Select	ENSP00000257548.5:p.Thr207Lys
ENST00000257548.9:c.620C>A	ENSP00000257548.5:p.Thr207Lys
ENST00000377883.7:c.*219C>A	ENSP00000473942.1:n.*219C>A
ENST00000392784.6:c.527C>A	ENSP00000376535.2:p.Thr176Lys
ENST00000467307.1:n.174C>A
ENST00000536393.5:c.437C>A	ENSP00000438829.1:p.Thr146Lys
ENST00000536723.5:c.527C>A	ENSP00000443678.1:p.Thr176Lys
NM_001301175.1:c.527C>A	NP_001288104.1:p.Thr176Lys
NM_032663.4:c.620C>A	NP_116052.2:p.Thr207Lys
XM_005253962.2:c.617C>A	XP_005254019.1:p.Thr206Lys
XM_005253963.2:c.542C>A	XP_005254020.1:p.Thr181Lys
XM_005253965.3:c.437C>A	XP_005254022.1:p.Thr146Lys
XM_006719653.2:c.527C>A	XP_006719716.1:p.Thr176Lys
XM_011538894.1:c.173C>A	XP_011537196.1:p.Thr58Lys
XM_005253962.3:c.617C>A	XP_005254019.1:p.Thr206Lys
XM_005253965.4:c.437C>A	XP_005254022.1:p.Thr146Lys
XM_006719653.3:c.527C>A	XP_006719716.1:p.Thr176Lys
XM_011538894.2:c.173C>A	XP_011537196.1:p.Thr58Lys
XM_017020048.1:c.620C>A	XP_016875537.1:p.Thr207Lys
XM_017020049.1:c.617C>A	XP_016875538.1:p.Thr206Lys
XM_017020050.1:c.527C>A	XP_016875539.1:p.Thr176Lys
XM_017020051.2:c.527C>A	XP_016875540.1:p.Thr176Lys
XM_017020052.2:c.527C>A	XP_016875541.1:p.Thr176Lys
XM_017020053.1:c.437C>A	XP_016875542.1:p.Thr146Lys
XM_017020054.1:c.173C>A	XP_016875543.1:p.Thr58Lys
XM_024449227.1:c.620C>A	XP_024304995.1:p.Thr207Lys
XM_024449228.1:c.344C>A	XP_024304996.1:p.Thr115Lys
NM_032663.5:c.620C>A MANE Select	NP_116052.2:p.Thr207Lys
NM_001301175.2:c.527C>A	NP_001288104.1:p.Thr176Lys