Canonical Allele Identifier: CA118503
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 6770
dbSNP Id: rs267608183
gnomAD v2: 1-2339890-C-T
gnomAD v3: 1-2408451-C-T
gnomAD v4: 1-2408451-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408451C>T , CM000663.2:g.2408451C>T GRCh38
NC_000001.10:g.2339890C>T , CM000663.1:g.2339890C>T GRCh37
NC_000001.9:g.2329750C>T NCBI36
NG_008342.1:g.9121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.600+1G>A ENSP00000288774.3:n.600+1G>A
ENST00000447513.7:c.600+1G>A MANE Select ENSP00000407922.2:n.600+1G>A
ENST00000650293.1:c.554+1G>A
ENST00000288774.7:c.600+1G>A ENSP00000288774.3:n.600+1G>A
ENST00000447513.6:c.600+1G>A ENSP00000407922.2:n.600+1G>A
ENST00000507596.5:c.600+1G>A ENSP00000424291.1:n.600+1G>A
ENST00000510434.1:c.596+5G>A ENSP00000423051.1:n.596+5G>A
NM_002617.3:c.600+1G>A NP_002608.1:n.600+1G>A
NM_153818.1:c.600+1G>A NP_722540.1:n.600+1G>A
XM_011541573.1:c.600+1G>A XP_011539875.1:n.600+1G>A
XM_011541574.1:c.168+1G>A XP_011539876.1:n.168+1G>A
XM_011541575.1:c.168+1G>A XP_011539877.1:n.168+1G>A
XM_011541576.1:c.596+5G>A XP_011539878.1:n.596+5G>A
XR_946666.1:n.716+5G>A
XM_011541576.2:c.596+5G>A XP_011539878.1:n.596+5G>A
XR_946666.2:n.665+5G>A
NM_001374425.1:c.600+1G>A NP_001361354.1:n.600+1G>A
NM_001374426.1:c.168+1G>A NP_001361355.1:n.168+1G>A
NM_001374427.1:c.168+1G>A NP_001361356.1:n.168+1G>A
NM_002617.4:c.600+1G>A MANE Select NP_002608.1:n.600+1G>A
NM_153818.2:c.600+1G>A NP_722540.1:n.600+1G>A
NR_164636.1:n.715+5G>A