Canonical Allele Identifier: CA337987749

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1409279
• ClinVar RCV Id: RCV001913568
• dbSNP Id: rs764948458
• MyVariant Identifiers: chr1:g.2340045G>C (hg19) ; chr1:g.2408606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408606G>C , CM000663.2:g.2408606G>C	GRCh38
NC_000001.10:g.2340045G>C , CM000663.1:g.2340045G>C	GRCh37
NC_000001.9:g.2329905G>C	NCBI36
NG_008342.1:g.8966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.446C>G	ENSP00000288774.3:p.Thr149Arg
ENST00000447513.7:c.446C>G MANE Select	ENSP00000407922.2:p.Thr149Arg
ENST00000650293.1:c.400C>G
ENST00000288774.7:c.446C>G	ENSP00000288774.3:p.Thr149Arg
ENST00000447513.6:c.446C>G	ENSP00000407922.2:p.Thr149Arg
ENST00000502666.1:c.651C>G	ENSP00000461951.1:n.651C>G
ENST00000507596.5:c.446C>G	ENSP00000424291.1:p.Thr149Arg
ENST00000508384.5:c.14C>G	ENSP00000464289.1:p.Thr5Arg
ENST00000510434.1:c.446C>G	ENSP00000423051.1:p.Thr149Arg
ENST00000515760.1:n.580C>G
NM_002617.3:c.446C>G	NP_002608.1:p.Thr149Arg
NM_153818.1:c.446C>G	NP_722540.1:p.Thr149Arg
XM_011541573.1:c.446C>G	XP_011539875.1:p.Thr149Arg
XM_011541574.1:c.14C>G	XP_011539876.1:p.Thr5Arg
XM_011541575.1:c.14C>G	XP_011539877.1:p.Thr5Arg
XM_011541576.1:c.446C>G	XP_011539878.1:p.Thr149Arg
XR_946666.1:n.566C>G
XM_011541576.2:c.446C>G	XP_011539878.1:p.Thr149Arg
XR_946666.2:n.515C>G
NM_001374425.1:c.446C>G	NP_001361354.1:p.Thr149Arg
NM_001374426.1:c.14C>G	NP_001361355.1:p.Thr5Arg
NM_001374427.1:c.14C>G	NP_001361356.1:p.Thr5Arg
NM_002617.4:c.446C>G MANE Select	NP_002608.1:p.Thr149Arg
NM_153818.2:c.446C>G	NP_722540.1:p.Thr149Arg
NR_164636.1:n.565C>G