Canonical Allele Identifier: CA537939
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2405770C>T , CM000663.2:g.2405770C>T GRCh38
NC_000001.10:g.2337209C>T , CM000663.1:g.2337209C>T GRCh37
NC_000001.9:g.2327069C>T NCBI36
NG_008342.1:g.11802G>A
NG_016128.1:g.18996C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.977G>A MANE Select NP_002608.1:p.Arg326His
ENST00000447513.7:c.977G>A MANE Select ENSP00000407922.2:p.Arg326His
NM_001374425.1:c.1034G>A NP_001361354.1:p.Arg345His
NM_001374426.1:c.602G>A NP_001361355.1:p.Arg201His
NM_001374427.1:c.545G>A NP_001361356.1:p.Arg182His
NM_002617.3:c.977G>A NP_002608.1:p.Arg326His
NM_153818.1:c.1037G>A NP_722540.1:p.Arg346His
NM_153818.2:c.1037G>A NP_722540.1:p.Arg346His
NR_164636.1:n.1092G>A
ENST00000288774.7:c.1037G>A ENSP00000288774.3:p.Arg346His
ENST00000288774.8:c.1037G>A ENSP00000288774.3:p.Arg346His
ENST00000447513.6:c.977G>A ENSP00000407922.2:p.Arg326His
ENST00000507596.5:c.971G>A ENSP00000424291.1:p.Arg324His
ENST00000650293.1:c.931G>A
XM_011541573.1:c.1034G>A XP_011539875.1:p.Arg345His
XM_011541574.1:c.602G>A XP_011539876.1:p.Arg201His
XM_011541575.1:c.602G>A XP_011539877.1:p.Arg201His
XR_946666.1:n.1093G>A
XR_946666.2:n.1042G>A