Canonical Allele Identifier: CA337984483

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406569C>A , CM000663.2:g.2406569C>A	GRCh38
NC_000001.10:g.2338008C>A , CM000663.1:g.2338008C>A	GRCh37
NC_000001.9:g.2327868C>A	NCBI36
NG_008342.1:g.11003G>T
NG_016128.1:g.19795C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.827G>T MANE Select	NP_002608.1:p.Cys276Phe
ENST00000447513.7:c.827G>T MANE Select	ENSP00000407922.2:p.Cys276Phe
NM_001374425.1:c.884G>T	NP_001361354.1:p.Cys295Phe
NM_001374426.1:c.452G>T	NP_001361355.1:p.Cys151Phe
NM_001374427.1:c.395G>T	NP_001361356.1:p.Cys132Phe
NM_002617.3:c.827G>T	NP_002608.1:p.Cys276Phe
NM_153818.1:c.887G>T	NP_722540.1:p.Cys296Phe
NM_153818.2:c.887G>T	NP_722540.1:p.Cys296Phe
NR_164636.1:n.942G>T
ENST00000288774.7:c.887G>T	ENSP00000288774.3:p.Cys296Phe
ENST00000288774.8:c.887G>T	ENSP00000288774.3:p.Cys296Phe
ENST00000447513.6:c.827G>T	ENSP00000407922.2:p.Cys276Phe
ENST00000507596.5:c.827G>T	ENSP00000424291.1:p.Cys276Phe
ENST00000510434.1:c.*193G>T	ENSP00000423051.1:n.*193G>T
ENST00000650293.1:c.781G>T
XM_011541573.1:c.884G>T	XP_011539875.1:p.Cys295Phe
XM_011541574.1:c.452G>T	XP_011539876.1:p.Cys151Phe
XM_011541575.1:c.452G>T	XP_011539877.1:p.Cys151Phe
XR_946666.1:n.943G>T
XR_946666.2:n.892G>T