Canonical Allele Identifier: CA10604149

Gene: PEX10

Linked Data

• ClinVar Variation Id: 282334
• ClinVar RCV Id: RCV000289565 ; RCV001381855 ; RCV001833319 ; RCV003155147 ; RCV003475892
• dbSNP Id: rs62641225
• gnomAD v4: 1-2406561-C-A
• MyVariant Identifiers: chr1:g.2338000C>A (hg19) ; chr1:g.2406561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406561C>A , CM000663.2:g.2406561C>A	GRCh38
NC_000001.10:g.2338000C>A , CM000663.1:g.2338000C>A	GRCh37
NC_000001.9:g.2327860C>A	NCBI36
NG_008342.1:g.11011G>T
NG_016128.1:g.19787C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.895G>T	ENSP00000288774.3:p.Glu299Ter
ENST00000447513.7:c.835G>T MANE Select	ENSP00000407922.2:p.Glu279Ter
ENST00000650293.1:c.789G>T
ENST00000288774.7:c.895G>T	ENSP00000288774.3:p.Glu299Ter
ENST00000447513.6:c.835G>T	ENSP00000407922.2:p.Glu279Ter
ENST00000507596.5:c.835G>T	ENSP00000424291.1:p.Glu279Ter
ENST00000510434.1:c.*201G>T	ENSP00000423051.1:n.*201G>T
NM_002617.3:c.835G>T	NP_002608.1:p.Glu279Ter
NM_153818.1:c.895G>T	NP_722540.1:p.Glu299Ter
XM_011541573.1:c.892G>T	XP_011539875.1:p.Glu298Ter
XM_011541574.1:c.460G>T	XP_011539876.1:p.Glu154Ter
XM_011541575.1:c.460G>T	XP_011539877.1:p.Glu154Ter
XR_946666.1:n.951G>T
XR_946666.2:n.900G>T
NM_001374425.1:c.892G>T	NP_001361354.1:p.Glu298Ter
NM_001374426.1:c.460G>T	NP_001361355.1:p.Glu154Ter
NM_001374427.1:c.403G>T	NP_001361356.1:p.Glu135Ter
NM_002617.4:c.835G>T MANE Select	NP_002608.1:p.Glu279Ter
NM_153818.2:c.895G>T	NP_722540.1:p.Glu299Ter
NR_164636.1:n.950G>T