Canonical Allele Identifier: CA337987520
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196904
ClinVar RCV Id: RCV002624542
dbSNP Id: rs1410364443
gnomAD v2: 1-2340016-C-G
gnomAD v3: 1-2408577-C-G
gnomAD v4: 1-2408577-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408577C>G , CM000663.2:g.2408577C>G GRCh38
NC_000001.10:g.2340016C>G , CM000663.1:g.2340016C>G GRCh37
NC_000001.9:g.2329876C>G NCBI36
NG_008342.1:g.8995G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.475G>C ENSP00000288774.3:p.Ala159Pro
ENST00000447513.7:c.475G>C MANE Select ENSP00000407922.2:p.Ala159Pro
ENST00000650293.1:c.429G>C
ENST00000288774.7:c.475G>C ENSP00000288774.3:p.Ala159Pro
ENST00000447513.6:c.475G>C ENSP00000407922.2:p.Ala159Pro
ENST00000507596.5:c.475G>C ENSP00000424291.1:p.Ala159Pro
ENST00000508384.5:c.43G>C ENSP00000464289.1:p.Ala15Pro
ENST00000510434.1:c.475G>C ENSP00000423051.1:p.Ala159Pro
NM_002617.3:c.475G>C NP_002608.1:p.Ala159Pro
NM_153818.1:c.475G>C NP_722540.1:p.Ala159Pro
XM_011541573.1:c.475G>C XP_011539875.1:p.Ala159Pro
XM_011541574.1:c.43G>C XP_011539876.1:p.Ala15Pro
XM_011541575.1:c.43G>C XP_011539877.1:p.Ala15Pro
XM_011541576.1:c.475G>C XP_011539878.1:p.Ala159Pro
XR_946666.1:n.595G>C
XM_011541576.2:c.475G>C XP_011539878.1:p.Ala159Pro
XR_946666.2:n.544G>C
NM_001374425.1:c.475G>C NP_001361354.1:p.Ala159Pro
NM_001374426.1:c.43G>C NP_001361355.1:p.Ala15Pro
NM_001374427.1:c.43G>C NP_001361356.1:p.Ala15Pro
NM_002617.4:c.475G>C MANE Select NP_002608.1:p.Ala159Pro
NM_153818.2:c.475G>C NP_722540.1:p.Ala159Pro
NR_164636.1:n.594G>C