Canonical Allele Identifier: CA337985253

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406769G>A , CM000663.2:g.2406769G>A	GRCh38
NC_000001.10:g.2338208G>A , CM000663.1:g.2338208G>A	GRCh37
NC_000001.9:g.2328068G>A	NCBI36
NG_008342.1:g.10803C>T
NG_016128.1:g.19995G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.727C>T MANE Select	NP_002608.1:p.Gln243Ter
ENST00000447513.7:c.727C>T MANE Select	ENSP00000407922.2:p.Gln243Ter
NM_001374425.1:c.784C>T	NP_001361354.1:p.Gln262Ter
NM_001374426.1:c.352C>T	NP_001361355.1:p.Gln118Ter
NM_001374427.1:c.295C>T	NP_001361356.1:p.Gln99Ter
NM_002617.3:c.727C>T	NP_002608.1:p.Gln243Ter
NM_153818.1:c.787C>T	NP_722540.1:p.Gln263Ter
NM_153818.2:c.787C>T	NP_722540.1:p.Gln263Ter
NR_164636.1:n.842C>T
ENST00000288774.7:c.787C>T	ENSP00000288774.3:p.Gln263Ter
ENST00000288774.8:c.787C>T	ENSP00000288774.3:p.Gln263Ter
ENST00000447513.6:c.727C>T	ENSP00000407922.2:p.Gln243Ter
ENST00000507596.5:c.727C>T	ENSP00000424291.1:p.Gln243Ter
ENST00000510434.1:c.*93C>T	ENSP00000423051.1:n.*93C>T
ENST00000650293.1:c.681C>T
XM_011541573.1:c.784C>T	XP_011539875.1:p.Gln262Ter
XM_011541574.1:c.352C>T	XP_011539876.1:p.Gln118Ter
XM_011541575.1:c.352C>T	XP_011539877.1:p.Gln118Ter
XR_946666.1:n.843C>T
XR_946666.2:n.792C>T