Canonical Allele Identifier: CA538050

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406747C>T , CM000663.2:g.2406747C>T	GRCh38
NC_000001.10:g.2338186C>T , CM000663.1:g.2338186C>T	GRCh37
NC_000001.9:g.2328046C>T	NCBI36
NG_008342.1:g.10825G>A
NG_016128.1:g.19973C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.749G>A MANE Select	NP_002608.1:p.Arg250Lys
ENST00000447513.7:c.749G>A MANE Select	ENSP00000407922.2:p.Arg250Lys
NM_001374425.1:c.806G>A	NP_001361354.1:p.Arg269Lys
NM_001374426.1:c.374G>A	NP_001361355.1:p.Arg125Lys
NM_001374427.1:c.317G>A	NP_001361356.1:p.Arg106Lys
NM_002617.3:c.749G>A	NP_002608.1:p.Arg250Lys
NM_153818.1:c.809G>A	NP_722540.1:p.Arg270Lys
NM_153818.2:c.809G>A	NP_722540.1:p.Arg270Lys
NR_164636.1:n.864G>A
ENST00000288774.7:c.809G>A	ENSP00000288774.3:p.Arg270Lys
ENST00000288774.8:c.809G>A	ENSP00000288774.3:p.Arg270Lys
ENST00000447513.6:c.749G>A	ENSP00000407922.2:p.Arg250Lys
ENST00000507596.5:c.749G>A	ENSP00000424291.1:p.Arg250Lys
ENST00000510434.1:c.*115G>A	ENSP00000423051.1:n.*115G>A
ENST00000650293.1:c.703G>A
XM_011541573.1:c.806G>A	XP_011539875.1:p.Arg269Lys
XM_011541574.1:c.374G>A	XP_011539876.1:p.Arg125Lys
XM_011541575.1:c.374G>A	XP_011539877.1:p.Arg125Lys
XR_946666.1:n.865G>A
XR_946666.2:n.814G>A