Canonical Allele Identifier: CA415775717

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406863C>G , CM000663.2:g.2406863C>G	GRCh38
NC_000001.10:g.2338302C>G , CM000663.1:g.2338302C>G	GRCh37
NC_000001.9:g.2328162C>G	NCBI36
NG_008342.1:g.10709G>C
NG_016128.1:g.20089C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.633G>C MANE Select	NP_002608.1:p.Leu211=
ENST00000447513.7:c.633G>C MANE Select	ENSP00000407922.2:p.Leu211=
NM_001374425.1:c.690G>C	NP_001361354.1:p.Leu230=
NM_001374426.1:c.258G>C	NP_001361355.1:p.Leu86=
NM_001374427.1:c.201G>C	NP_001361356.1:p.Leu67=
NM_002617.3:c.633G>C	NP_002608.1:p.Leu211=
NM_153818.1:c.693G>C	NP_722540.1:p.Leu231=
NM_153818.2:c.693G>C	NP_722540.1:p.Leu231=
NR_164636.1:n.748G>C
ENST00000288774.7:c.693G>C	ENSP00000288774.3:p.Leu231=
ENST00000288774.8:c.693G>C	ENSP00000288774.3:p.Leu231=
ENST00000447513.6:c.633G>C	ENSP00000407922.2:p.Leu211=
ENST00000507596.5:c.633G>C	ENSP00000424291.1:p.Leu211=
ENST00000510434.1:c.629G>C	ENSP00000423051.1:p.Ter210Ser
ENST00000650293.1:c.587G>C
XM_011541573.1:c.690G>C	XP_011539875.1:p.Leu230=
XM_011541574.1:c.258G>C	XP_011539876.1:p.Leu86=
XM_011541575.1:c.258G>C	XP_011539877.1:p.Leu86=
XR_946666.1:n.749G>C
XR_946666.2:n.698G>C