Canonical Allele Identifier: CA538051

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406750C>T , CM000663.2:g.2406750C>T	GRCh38
NC_000001.10:g.2338189C>T , CM000663.1:g.2338189C>T	GRCh37
NC_000001.9:g.2328049C>T	NCBI36
NG_008342.1:g.10822G>A
NG_016128.1:g.19976C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.746G>A MANE Select	NP_002608.1:p.Trp249Ter
ENST00000447513.7:c.746G>A MANE Select	ENSP00000407922.2:p.Trp249Ter
NM_001374425.1:c.803G>A	NP_001361354.1:p.Trp268Ter
NM_001374426.1:c.371G>A	NP_001361355.1:p.Trp124Ter
NM_001374427.1:c.314G>A	NP_001361356.1:p.Trp105Ter
NM_002617.3:c.746G>A	NP_002608.1:p.Trp249Ter
NM_153818.1:c.806G>A	NP_722540.1:p.Trp269Ter
NM_153818.2:c.806G>A	NP_722540.1:p.Trp269Ter
NR_164636.1:n.861G>A
ENST00000288774.7:c.806G>A	ENSP00000288774.3:p.Trp269Ter
ENST00000288774.8:c.806G>A	ENSP00000288774.3:p.Trp269Ter
ENST00000447513.6:c.746G>A	ENSP00000407922.2:p.Trp249Ter
ENST00000507596.5:c.746G>A	ENSP00000424291.1:p.Trp249Ter
ENST00000510434.1:c.*112G>A	ENSP00000423051.1:n.*112G>A
ENST00000650293.1:c.700G>A
XM_011541573.1:c.803G>A	XP_011539875.1:p.Trp268Ter
XM_011541574.1:c.371G>A	XP_011539876.1:p.Trp124Ter
XM_011541575.1:c.371G>A	XP_011539877.1:p.Trp124Ter
XR_946666.1:n.862G>A
XR_946666.2:n.811G>A