Canonical Allele Identifier: CA337989465
Community Standard Title: NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2410430C>T , CM000663.2:g.2410430C>T GRCh38
NC_000001.10:g.2341869C>T , CM000663.1:g.2341869C>T GRCh37
NC_000001.9:g.2331729C>T NCBI36
NG_008342.1:g.7142G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.134G>A MANE Select NP_002608.1:p.Trp45Ter
ENST00000447513.7:c.134G>A MANE Select ENSP00000407922.2:p.Trp45Ter
NM_001374425.1:c.134G>A NP_001361354.1:p.Trp45Ter
NM_001374426.1:c.-299G>A NP_001361355.1:n.-299G>A
NM_001374427.1:c.-299G>A NP_001361356.1:n.-299G>A
NM_002617.3:c.134G>A NP_002608.1:p.Trp45Ter
NM_153818.1:c.134G>A NP_722540.1:p.Trp45Ter
NM_153818.2:c.134G>A NP_722540.1:p.Trp45Ter
NR_164636.1:n.253G>A
ENST00000288774.7:c.134G>A ENSP00000288774.3:p.Trp45Ter
ENST00000288774.8:c.134G>A ENSP00000288774.3:p.Trp45Ter
ENST00000447513.6:c.134G>A ENSP00000407922.2:p.Trp45Ter
ENST00000502666.1:c.229G>A ENSP00000461951.1:n.229G>A
ENST00000507596.5:c.134G>A ENSP00000424291.1:p.Trp45Ter
ENST00000508384.5:c.-299G>A ENSP00000464289.1:n.-299G>A
ENST00000510434.1:c.134G>A ENSP00000423051.1:p.Trp45Ter
ENST00000514502.1:c.*151G>A ENSP00000425924.1:n.*151G>A
ENST00000650293.1:c.88G>A
XM_011541573.1:c.134G>A XP_011539875.1:p.Trp45Ter
XM_011541574.1:c.-299G>A XP_011539876.1:n.-299G>A
XM_011541575.1:c.-299G>A XP_011539877.1:n.-299G>A
XM_011541576.1:c.134G>A XP_011539878.1:p.Trp45Ter
XM_011541576.2:c.134G>A XP_011539878.1:p.Trp45Ter
XR_946666.1:n.254G>A
XR_946666.2:n.203G>A