Canonical Allele Identifier: CA337985354

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406793G>A , CM000663.2:g.2406793G>A	GRCh38
NC_000001.10:g.2338232G>A , CM000663.1:g.2338232G>A	GRCh37
NC_000001.9:g.2328092G>A	NCBI36
NG_008342.1:g.10779C>T
NG_016128.1:g.20019G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.703C>T MANE Select	NP_002608.1:p.Gln235Ter
ENST00000447513.7:c.703C>T MANE Select	ENSP00000407922.2:p.Gln235Ter
NM_001374425.1:c.760C>T	NP_001361354.1:p.Gln254Ter
NM_001374426.1:c.328C>T	NP_001361355.1:p.Gln110Ter
NM_001374427.1:c.271C>T	NP_001361356.1:p.Gln91Ter
NM_002617.3:c.703C>T	NP_002608.1:p.Gln235Ter
NM_153818.1:c.763C>T	NP_722540.1:p.Gln255Ter
NM_153818.2:c.763C>T	NP_722540.1:p.Gln255Ter
NR_164636.1:n.818C>T
ENST00000288774.7:c.763C>T	ENSP00000288774.3:p.Gln255Ter
ENST00000288774.8:c.763C>T	ENSP00000288774.3:p.Gln255Ter
ENST00000447513.6:c.703C>T	ENSP00000407922.2:p.Gln235Ter
ENST00000507596.5:c.703C>T	ENSP00000424291.1:p.Gln235Ter
ENST00000510434.1:c.*69C>T	ENSP00000423051.1:n.*69C>T
ENST00000650293.1:c.657C>T
XM_011541573.1:c.760C>T	XP_011539875.1:p.Gln254Ter
XM_011541574.1:c.328C>T	XP_011539876.1:p.Gln110Ter
XM_011541575.1:c.328C>T	XP_011539877.1:p.Gln110Ter
XR_946666.1:n.819C>T
XR_946666.2:n.768C>T