Canonical Allele Identifier: CA337985708

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406874C>A , CM000663.2:g.2406874C>A	GRCh38
NC_000001.10:g.2338313C>A , CM000663.1:g.2338313C>A	GRCh37
NC_000001.9:g.2328173C>A	NCBI36
NG_008342.1:g.10698G>T
NG_016128.1:g.20100C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.622G>T MANE Select	NP_002608.1:p.Gly208Ter
ENST00000447513.7:c.622G>T MANE Select	ENSP00000407922.2:p.Gly208Ter
NM_001374425.1:c.679G>T	NP_001361354.1:p.Gly227Ter
NM_001374426.1:c.247G>T	NP_001361355.1:p.Gly83Ter
NM_001374427.1:c.190G>T	NP_001361356.1:p.Gly64Ter
NM_002617.3:c.622G>T	NP_002608.1:p.Gly208Ter
NM_153818.1:c.682G>T	NP_722540.1:p.Gly228Ter
NM_153818.2:c.682G>T	NP_722540.1:p.Gly228Ter
NR_164636.1:n.737G>T
ENST00000288774.7:c.682G>T	ENSP00000288774.3:p.Gly228Ter
ENST00000288774.8:c.682G>T	ENSP00000288774.3:p.Gly228Ter
ENST00000447513.6:c.622G>T	ENSP00000407922.2:p.Gly208Ter
ENST00000507596.5:c.622G>T	ENSP00000424291.1:p.Gly208Ter
ENST00000510434.1:c.618G>T	ENSP00000423051.1:p.Pro206=
ENST00000650293.1:c.576G>T
XM_011541573.1:c.679G>T	XP_011539875.1:p.Gly227Ter
XM_011541574.1:c.247G>T	XP_011539876.1:p.Gly83Ter
XM_011541575.1:c.247G>T	XP_011539877.1:p.Gly83Ter
XR_946666.1:n.738G>T
XR_946666.2:n.687G>T