Canonical Allele Identifier: CA538227
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 296283
dbSNP Id: rs375649043
gnomAD v2: 1-2340216-C-T
gnomAD v3: 1-2408777-C-T
gnomAD v4: 1-2408777-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408777C>T , CM000663.2:g.2408777C>T GRCh38
NC_000001.10:g.2340216C>T , CM000663.1:g.2340216C>T GRCh37
NC_000001.9:g.2330076C>T NCBI36
NG_008342.1:g.8795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.275G>A ENSP00000288774.3:p.Arg92His
ENST00000447513.7:c.275G>A MANE Select ENSP00000407922.2:p.Arg92His
ENST00000650293.1:c.229G>A
ENST00000288774.7:c.275G>A ENSP00000288774.3:p.Arg92His
ENST00000447513.6:c.275G>A ENSP00000407922.2:p.Arg92His
ENST00000502666.1:c.480G>A ENSP00000461951.1:n.480G>A
ENST00000507596.5:c.275G>A ENSP00000424291.1:p.Arg92His
ENST00000508384.5:c.-158G>A ENSP00000464289.1:n.-158G>A
ENST00000510434.1:c.275G>A ENSP00000423051.1:p.Arg92His
ENST00000514502.1:c.*292G>A ENSP00000425924.1:n.*292G>A
ENST00000515760.1:n.409G>A
NM_002617.3:c.275G>A NP_002608.1:p.Arg92His
NM_153818.1:c.275G>A NP_722540.1:p.Arg92His
XM_011541573.1:c.275G>A XP_011539875.1:p.Arg92His
XM_011541574.1:c.-158G>A XP_011539876.1:n.-158G>A
XM_011541575.1:c.-158G>A XP_011539877.1:n.-158G>A
XM_011541576.1:c.275G>A XP_011539878.1:p.Arg92His
XR_946666.1:n.395G>A
XM_011541576.2:c.275G>A XP_011539878.1:p.Arg92His
XR_946666.2:n.344G>A
NM_001374425.1:c.275G>A NP_001361354.1:p.Arg92His
NM_001374426.1:c.-158G>A NP_001361355.1:n.-158G>A
NM_001374427.1:c.-158G>A NP_001361356.1:n.-158G>A
NM_002617.4:c.275G>A MANE Select NP_002608.1:p.Arg92His
NM_153818.2:c.275G>A NP_722540.1:p.Arg92His
NR_164636.1:n.394G>A