Canonical Allele Identifier: CA337989103

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408841C>A , CM000663.2:g.2408841C>A	GRCh38
NC_000001.10:g.2340280C>A , CM000663.1:g.2340280C>A	GRCh37
NC_000001.9:g.2330140C>A	NCBI36
NG_008342.1:g.8731G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.211G>T MANE Select	NP_002608.1:p.Glu71Ter
ENST00000447513.7:c.211G>T MANE Select	ENSP00000407922.2:p.Glu71Ter
NM_001374425.1:c.211G>T	NP_001361354.1:p.Glu71Ter
NM_001374426.1:c.-222G>T	NP_001361355.1:n.-222G>T
NM_001374427.1:c.-222G>T	NP_001361356.1:n.-222G>T
NM_002617.3:c.211G>T	NP_002608.1:p.Glu71Ter
NM_153818.1:c.211G>T	NP_722540.1:p.Glu71Ter
NM_153818.2:c.211G>T	NP_722540.1:p.Glu71Ter
NR_164636.1:n.330G>T
ENST00000288774.7:c.211G>T	ENSP00000288774.3:p.Glu71Ter
ENST00000288774.8:c.211G>T	ENSP00000288774.3:p.Glu71Ter
ENST00000447513.6:c.211G>T	ENSP00000407922.2:p.Glu71Ter
ENST00000502666.1:c.416G>T	ENSP00000461951.1:n.416G>T
ENST00000507596.5:c.211G>T	ENSP00000424291.1:p.Glu71Ter
ENST00000508384.5:c.-222G>T	ENSP00000464289.1:n.-222G>T
ENST00000510434.1:c.211G>T	ENSP00000423051.1:p.Glu71Ter
ENST00000514502.1:c.*228G>T	ENSP00000425924.1:n.*228G>T
ENST00000515760.1:n.345G>T
ENST00000650293.1:c.165G>T
XM_011541573.1:c.211G>T	XP_011539875.1:p.Glu71Ter
XM_011541574.1:c.-222G>T	XP_011539876.1:n.-222G>T
XM_011541575.1:c.-222G>T	XP_011539877.1:n.-222G>T
XM_011541576.1:c.211G>T	XP_011539878.1:p.Glu71Ter
XM_011541576.2:c.211G>T	XP_011539878.1:p.Glu71Ter
XR_946666.1:n.331G>T
XR_946666.2:n.280G>T