Canonical Allele Identifier: CA337987748

Gene: PEX10

Linked Data

• dbSNP Id: rs1643086314
• gnomAD v3: 1-2408604-C-T
• gnomAD v4: 1-2408604-C-T
• MyVariant Identifiers: chr1:g.2340043C>T (hg19) ; chr1:g.2408604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408604C>T , CM000663.2:g.2408604C>T	GRCh38
NC_000001.10:g.2340043C>T , CM000663.1:g.2340043C>T	GRCh37
NC_000001.9:g.2329903C>T	NCBI36
NG_008342.1:g.8968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.448G>A	ENSP00000288774.3:p.Ala150Thr
ENST00000447513.7:c.448G>A MANE Select	ENSP00000407922.2:p.Ala150Thr
ENST00000650293.1:c.402G>A
ENST00000288774.7:c.448G>A	ENSP00000288774.3:p.Ala150Thr
ENST00000447513.6:c.448G>A	ENSP00000407922.2:p.Ala150Thr
ENST00000502666.1:c.653G>A	ENSP00000461951.1:n.653G>A
ENST00000507596.5:c.448G>A	ENSP00000424291.1:p.Ala150Thr
ENST00000508384.5:c.16G>A	ENSP00000464289.1:p.Ala6Thr
ENST00000510434.1:c.448G>A	ENSP00000423051.1:p.Ala150Thr
ENST00000515760.1:n.582G>A
NM_002617.3:c.448G>A	NP_002608.1:p.Ala150Thr
NM_153818.1:c.448G>A	NP_722540.1:p.Ala150Thr
XM_011541573.1:c.448G>A	XP_011539875.1:p.Ala150Thr
XM_011541574.1:c.16G>A	XP_011539876.1:p.Ala6Thr
XM_011541575.1:c.16G>A	XP_011539877.1:p.Ala6Thr
XM_011541576.1:c.448G>A	XP_011539878.1:p.Ala150Thr
XR_946666.1:n.568G>A
XM_011541576.2:c.448G>A	XP_011539878.1:p.Ala150Thr
XR_946666.2:n.517G>A
NM_001374425.1:c.448G>A	NP_001361354.1:p.Ala150Thr
NM_001374426.1:c.16G>A	NP_001361355.1:p.Ala6Thr
NM_001374427.1:c.16G>A	NP_001361356.1:p.Ala6Thr
NM_002617.4:c.448G>A MANE Select	NP_002608.1:p.Ala150Thr
NM_153818.2:c.448G>A	NP_722540.1:p.Ala150Thr
NR_164636.1:n.567G>A