Canonical Allele Identifier: CA538184
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 296280
dbSNP Id: rs76530653
gnomAD v2: 1-2340073-C-G
gnomAD v3: 1-2408634-C-G
gnomAD v4: 1-2408634-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408634C>G , CM000663.2:g.2408634C>G GRCh38
NC_000001.10:g.2340073C>G , CM000663.1:g.2340073C>G GRCh37
NC_000001.9:g.2329933C>G NCBI36
NG_008342.1:g.8938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.418G>C ENSP00000288774.3:p.Gly140Arg
ENST00000447513.7:c.418G>C MANE Select ENSP00000407922.2:p.Gly140Arg
ENST00000650293.1:c.372G>C
ENST00000288774.7:c.418G>C ENSP00000288774.3:p.Gly140Arg
ENST00000447513.6:c.418G>C ENSP00000407922.2:p.Gly140Arg
ENST00000502666.1:c.623G>C ENSP00000461951.1:n.623G>C
ENST00000507596.5:c.418G>C ENSP00000424291.1:p.Gly140Arg
ENST00000508384.5:c.-15G>C ENSP00000464289.1:n.-15G>C
ENST00000510434.1:c.418G>C ENSP00000423051.1:p.Gly140Arg
ENST00000515760.1:n.552G>C
NM_002617.3:c.418G>C NP_002608.1:p.Gly140Arg
NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg
XM_011541573.1:c.418G>C XP_011539875.1:p.Gly140Arg
XM_011541574.1:c.-15G>C XP_011539876.1:n.-15G>C
XM_011541575.1:c.-15G>C XP_011539877.1:n.-15G>C
XM_011541576.1:c.418G>C XP_011539878.1:p.Gly140Arg
XR_946666.1:n.538G>C
XM_011541576.2:c.418G>C XP_011539878.1:p.Gly140Arg
XR_946666.2:n.487G>C
NM_001374425.1:c.418G>C NP_001361354.1:p.Gly140Arg
NM_001374426.1:c.-15G>C NP_001361355.1:n.-15G>C
NM_001374427.1:c.-15G>C NP_001361356.1:n.-15G>C
NM_002617.4:c.418G>C MANE Select NP_002608.1:p.Gly140Arg
NM_153818.2:c.418G>C NP_722540.1:p.Gly140Arg
NR_164636.1:n.537G>C