Canonical Allele Identifier: CA337984315

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337978G>C (hg19) ; chr1:g.2406539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406539G>C , CM000663.2:g.2406539G>C	GRCh38
NC_000001.10:g.2337978G>C , CM000663.1:g.2337978G>C	GRCh37
NC_000001.9:g.2327838G>C	NCBI36
NG_008342.1:g.11033C>G
NG_016128.1:g.19765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.917C>G	ENSP00000288774.3:p.Thr306Arg
ENST00000447513.7:c.857C>G MANE Select	ENSP00000407922.2:p.Thr286Arg
ENST00000650293.1:c.811C>G
ENST00000288774.7:c.917C>G	ENSP00000288774.3:p.Thr306Arg
ENST00000447513.6:c.857C>G	ENSP00000407922.2:p.Thr286Arg
ENST00000507596.5:c.857C>G	ENSP00000424291.1:p.Thr286Arg
ENST00000510434.1:c.*223C>G	ENSP00000423051.1:n.*223C>G
NM_002617.3:c.857C>G	NP_002608.1:p.Thr286Arg
NM_153818.1:c.917C>G	NP_722540.1:p.Thr306Arg
XM_011541573.1:c.914C>G	XP_011539875.1:p.Thr305Arg
XM_011541574.1:c.482C>G	XP_011539876.1:p.Thr161Arg
XM_011541575.1:c.482C>G	XP_011539877.1:p.Thr161Arg
XR_946666.1:n.973C>G
XR_946666.2:n.922C>G
NM_001374425.1:c.914C>G	NP_001361354.1:p.Thr305Arg
NM_001374426.1:c.482C>G	NP_001361355.1:p.Thr161Arg
NM_001374427.1:c.425C>G	NP_001361356.1:p.Thr142Arg
NM_002617.4:c.857C>G MANE Select	NP_002608.1:p.Thr286Arg
NM_153818.2:c.917C>G	NP_722540.1:p.Thr306Arg
NR_164636.1:n.972C>G