Canonical Allele Identifier: CA175042

Gene: PEX10

Linked Data

• ClinVar Variation Id: 162435
• ClinVar RCV Id: RCV000149813 ; RCV000677268 ; RCV000666851 ; RCV001208724 ; RCV001844050 ; RCV001831930
• dbSNP Id: rs61752092
• ExAC: 1:2338205 G / A
• gnomAD v2: 1-2338205-G-A
• gnomAD v4: 1-2406766-G-A
• MyVariant Identifiers: chr1:g.2338205G>A (hg19) ; chr1:g.2406766G>A (hg38)
• PubMed: PMID:20695019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406766G>A , CM000663.2:g.2406766G>A	GRCh38
NC_000001.10:g.2338205G>A , CM000663.1:g.2338205G>A	GRCh37
NC_000001.9:g.2328065G>A	NCBI36
NG_008342.1:g.10806C>T
NG_016128.1:g.19992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.790C>T	ENSP00000288774.3:p.Arg264Ter
ENST00000447513.7:c.730C>T MANE Select	ENSP00000407922.2:p.Arg244Ter
ENST00000650293.1:c.684C>T
ENST00000288774.7:c.790C>T	ENSP00000288774.3:p.Arg264Ter
ENST00000447513.6:c.730C>T	ENSP00000407922.2:p.Arg244Ter
ENST00000507596.5:c.730C>T	ENSP00000424291.1:p.Arg244Ter
ENST00000510434.1:c.*96C>T	ENSP00000423051.1:n.*96C>T
NM_002617.3:c.730C>T	NP_002608.1:p.Arg244Ter
NM_153818.1:c.790C>T	NP_722540.1:p.Arg264Ter
XM_011541573.1:c.787C>T	XP_011539875.1:p.Arg263Ter
XM_011541574.1:c.355C>T	XP_011539876.1:p.Arg119Ter
XM_011541575.1:c.355C>T	XP_011539877.1:p.Arg119Ter
XR_946666.1:n.846C>T
XR_946666.2:n.795C>T
NM_001374425.1:c.787C>T	NP_001361354.1:p.Arg263Ter
NM_001374426.1:c.355C>T	NP_001361355.1:p.Arg119Ter
NM_001374427.1:c.298C>T	NP_001361356.1:p.Arg100Ter
NM_002617.4:c.730C>T MANE Select	NP_002608.1:p.Arg244Ter
NM_153818.2:c.790C>T	NP_722540.1:p.Arg264Ter
NR_164636.1:n.845C>T