Canonical Allele Identifier: CA337989110

Gene: PEX10

Linked Data

• dbSNP Id: rs1643096230
• MyVariant Identifiers: chr1:g.2340282C>T (hg19) ; chr1:g.2408843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408843C>T , CM000663.2:g.2408843C>T	GRCh38
NC_000001.10:g.2340282C>T , CM000663.1:g.2340282C>T	GRCh37
NC_000001.9:g.2330142C>T	NCBI36
NG_008342.1:g.8729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.209G>A	ENSP00000288774.3:p.Gly70Glu
ENST00000447513.7:c.209G>A MANE Select	ENSP00000407922.2:p.Gly70Glu
ENST00000650293.1:c.163G>A
ENST00000288774.7:c.209G>A	ENSP00000288774.3:p.Gly70Glu
ENST00000447513.6:c.209G>A	ENSP00000407922.2:p.Gly70Glu
ENST00000502666.1:c.414G>A	ENSP00000461951.1:n.414G>A
ENST00000507596.5:c.209G>A	ENSP00000424291.1:p.Gly70Glu
ENST00000508384.5:c.-224G>A	ENSP00000464289.1:n.-224G>A
ENST00000510434.1:c.209G>A	ENSP00000423051.1:p.Gly70Glu
ENST00000514502.1:c.*226G>A	ENSP00000425924.1:n.*226G>A
ENST00000515760.1:n.343G>A
NM_002617.3:c.209G>A	NP_002608.1:p.Gly70Glu
NM_153818.1:c.209G>A	NP_722540.1:p.Gly70Glu
XM_011541573.1:c.209G>A	XP_011539875.1:p.Gly70Glu
XM_011541574.1:c.-224G>A	XP_011539876.1:n.-224G>A
XM_011541575.1:c.-224G>A	XP_011539877.1:n.-224G>A
XM_011541576.1:c.209G>A	XP_011539878.1:p.Gly70Glu
XR_946666.1:n.329G>A
XM_011541576.2:c.209G>A	XP_011539878.1:p.Gly70Glu
XR_946666.2:n.278G>A
NM_001374425.1:c.209G>A	NP_001361354.1:p.Gly70Glu
NM_001374426.1:c.-224G>A	NP_001361355.1:n.-224G>A
NM_001374427.1:c.-224G>A	NP_001361356.1:n.-224G>A
NM_002617.4:c.209G>A MANE Select	NP_002608.1:p.Gly70Glu
NM_153818.2:c.209G>A	NP_722540.1:p.Gly70Glu
NR_164636.1:n.328G>A