Canonical Allele Identifier: CA337984025

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1410888
• ClinVar RCV Id: RCV001940190
• dbSNP Id: rs2100421331
• MyVariant Identifiers: chr1:g.2337927C>G (hg19) ; chr1:g.2406488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406488C>G , CM000663.2:g.2406488C>G	GRCh38
NC_000001.10:g.2337927C>G , CM000663.1:g.2337927C>G	GRCh37
NC_000001.9:g.2327787C>G	NCBI36
NG_008342.1:g.11084G>C
NG_016128.1:g.19714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.968G>C	ENSP00000288774.3:p.Ser323Thr
ENST00000447513.7:c.908G>C MANE Select	ENSP00000407922.2:p.Ser303Thr
ENST00000650293.1:c.862G>C
ENST00000288774.7:c.968G>C	ENSP00000288774.3:p.Ser323Thr
ENST00000447513.6:c.908G>C	ENSP00000407922.2:p.Ser303Thr
ENST00000507596.5:c.908G>C	ENSP00000424291.1:p.Ser303Thr
NM_002617.3:c.908G>C	NP_002608.1:p.Ser303Thr
NM_153818.1:c.968G>C	NP_722540.1:p.Ser323Thr
XM_011541573.1:c.965G>C	XP_011539875.1:p.Ser322Thr
XM_011541574.1:c.533G>C	XP_011539876.1:p.Ser178Thr
XM_011541575.1:c.533G>C	XP_011539877.1:p.Ser178Thr
XR_946666.1:n.1024G>C
XR_946666.2:n.973G>C
NM_001374425.1:c.965G>C	NP_001361354.1:p.Ser322Thr
NM_001374426.1:c.533G>C	NP_001361355.1:p.Ser178Thr
NM_001374427.1:c.476G>C	NP_001361356.1:p.Ser159Thr
NM_002617.4:c.908G>C MANE Select	NP_002608.1:p.Ser303Thr
NM_153818.2:c.968G>C	NP_722540.1:p.Ser323Thr
NR_164636.1:n.1023G>C