Canonical Allele Identifier: CA538084

Gene: PEX10

Linked Data

• ClinVar Variation Id: 498837
• ClinVar RCV Id: RCV000598146 ; RCV000970658 ; RCV001097564 ; RCV003409861
• dbSNP Id: rs141430704
• ExAC: 1:2338308 C / T
• gnomAD v2: 1-2338308-C-T
• gnomAD v3: 1-2406869-C-T
• gnomAD v4: 1-2406869-C-T
• MyVariant Identifiers: chr1:g.2338308C>T (hg19) ; chr1:g.2406869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406869C>T , CM000663.2:g.2406869C>T	GRCh38
NC_000001.10:g.2338308C>T , CM000663.1:g.2338308C>T	GRCh37
NC_000001.9:g.2328168C>T	NCBI36
NG_008342.1:g.10703G>A
NG_016128.1:g.20095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.687G>A	ENSP00000288774.3:p.Glu229=
ENST00000447513.7:c.627G>A MANE Select	ENSP00000407922.2:p.Glu209=
ENST00000650293.1:c.581G>A
ENST00000288774.7:c.687G>A	ENSP00000288774.3:p.Glu229=
ENST00000447513.6:c.627G>A	ENSP00000407922.2:p.Glu209=
ENST00000507596.5:c.627G>A	ENSP00000424291.1:p.Glu209=
ENST00000510434.1:c.623G>A	ENSP00000423051.1:p.Arg208Lys
NM_002617.3:c.627G>A	NP_002608.1:p.Glu209=
NM_153818.1:c.687G>A	NP_722540.1:p.Glu229=
XM_011541573.1:c.684G>A	XP_011539875.1:p.Glu228=
XM_011541574.1:c.252G>A	XP_011539876.1:p.Glu84=
XM_011541575.1:c.252G>A	XP_011539877.1:p.Glu84=
XR_946666.1:n.743G>A
XR_946666.2:n.692G>A
NM_001374425.1:c.684G>A	NP_001361354.1:p.Glu228=
NM_001374426.1:c.252G>A	NP_001361355.1:p.Glu84=
NM_001374427.1:c.195G>A	NP_001361356.1:p.Glu65=
NM_002617.4:c.627G>A MANE Select	NP_002608.1:p.Glu209=
NM_153818.2:c.687G>A	NP_722540.1:p.Glu229=
NR_164636.1:n.742G>A