Canonical Allele Identifier: CA337984078
Community Standard Title: NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406497C>T , CM000663.2:g.2406497C>T GRCh38
NC_000001.10:g.2337936C>T , CM000663.1:g.2337936C>T GRCh37
NC_000001.9:g.2327796C>T NCBI36
NG_008342.1:g.11075G>A
NG_016128.1:g.19723C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.899G>A MANE Select NP_002608.1:p.Trp300Ter
ENST00000447513.7:c.899G>A MANE Select ENSP00000407922.2:p.Trp300Ter
NM_001374425.1:c.956G>A NP_001361354.1:p.Trp319Ter
NM_001374426.1:c.524G>A NP_001361355.1:p.Trp175Ter
NM_001374427.1:c.467G>A NP_001361356.1:p.Trp156Ter
NM_002617.3:c.899G>A NP_002608.1:p.Trp300Ter
NM_153818.1:c.959G>A NP_722540.1:p.Trp320Ter
NM_153818.2:c.959G>A NP_722540.1:p.Trp320Ter
NR_164636.1:n.1014G>A
ENST00000288774.7:c.959G>A ENSP00000288774.3:p.Trp320Ter
ENST00000288774.8:c.959G>A ENSP00000288774.3:p.Trp320Ter
ENST00000447513.6:c.899G>A ENSP00000407922.2:p.Trp300Ter
ENST00000507596.5:c.899G>A ENSP00000424291.1:p.Trp300Ter
ENST00000650293.1:c.853G>A
XM_011541573.1:c.956G>A XP_011539875.1:p.Trp319Ter
XM_011541574.1:c.524G>A XP_011539876.1:p.Trp175Ter
XM_011541575.1:c.524G>A XP_011539877.1:p.Trp175Ter
XR_946666.1:n.1015G>A
XR_946666.2:n.964G>A