Canonical Allele Identifier: CA6772167

Gene: USP30

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109085875G>A , CM000674.2:g.109085875G>A	GRCh38
NC_000012.11:g.109523680G>A , CM000674.1:g.109523680G>A	GRCh37
NC_000012.10:g.108008063G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032663.5:c.1498G>A MANE Select	NP_116052.2:p.Glu500Lys
ENST00000257548.10:c.1498G>A MANE Select	ENSP00000257548.5:p.Glu500Lys
NM_001301175.1:c.1405G>A	NP_001288104.1:p.Glu469Lys
NM_001301175.2:c.1405G>A	NP_001288104.1:p.Glu469Lys
NM_032663.4:c.1498G>A	NP_116052.2:p.Glu500Lys
ENST00000257548.9:c.1498G>A	ENSP00000257548.5:p.Glu500Lys
ENST00000392784.6:c.1405G>A	ENSP00000376535.2:p.Glu469Lys
ENST00000470117.2:c.220G>A	ENSP00000474166.1:p.Glu74Lys
ENST00000479219.5:n.758G>A
ENST00000491362.1:n.698G>A
XM_005253962.2:c.1495G>A	XP_005254019.1:p.Glu499Lys
XM_005253962.3:c.1495G>A	XP_005254019.1:p.Glu499Lys
XM_005253963.2:c.1420G>A	XP_005254020.1:p.Glu474Lys
XM_005253965.3:c.1315G>A	XP_005254022.1:p.Glu439Lys
XM_005253965.4:c.1315G>A	XP_005254022.1:p.Glu439Lys
XM_006719653.2:c.1405G>A	XP_006719716.1:p.Glu469Lys
XM_006719653.3:c.1405G>A	XP_006719716.1:p.Glu469Lys
XM_011538894.1:c.1051G>A	XP_011537196.1:p.Glu351Lys
XM_011538894.2:c.1051G>A	XP_011537196.1:p.Glu351Lys
XM_017020048.1:c.1609G>A	XP_016875537.1:p.Glu537Lys
XM_017020049.1:c.1606G>A	XP_016875538.1:p.Glu536Lys
XM_017020050.1:c.1516G>A	XP_016875539.1:p.Glu506Lys
XM_017020051.2:c.1516G>A	XP_016875540.1:p.Glu506Lys
XM_017020052.2:c.1516G>A	XP_016875541.1:p.Glu506Lys
XM_017020053.1:c.1426G>A	XP_016875542.1:p.Glu476Lys
XM_017020054.1:c.1162G>A	XP_016875543.1:p.Glu388Lys
XM_024449227.1:c.1597G>A	XP_024304995.1:p.Glu533Lys
XM_024449228.1:c.1222G>A	XP_024304996.1:p.Glu408Lys