Canonical Allele Identifier: CA337987896

Gene: PEX10

Linked Data

• dbSNP Id: rs994755833
• gnomAD v2: 1-2340059-C-A
• gnomAD v4: 1-2408620-C-A
• MyVariant Identifiers: chr1:g.2340059C>A (hg19) ; chr1:g.2408620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408620C>A , CM000663.2:g.2408620C>A	GRCh38
NC_000001.10:g.2340059C>A , CM000663.1:g.2340059C>A	GRCh37
NC_000001.9:g.2329919C>A	NCBI36
NG_008342.1:g.8952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.432G>T	ENSP00000288774.3:p.Trp144Cys
ENST00000447513.7:c.432G>T MANE Select	ENSP00000407922.2:p.Trp144Cys
ENST00000650293.1:c.386G>T
ENST00000288774.7:c.432G>T	ENSP00000288774.3:p.Trp144Cys
ENST00000447513.6:c.432G>T	ENSP00000407922.2:p.Trp144Cys
ENST00000502666.1:c.637G>T	ENSP00000461951.1:n.637G>T
ENST00000507596.5:c.432G>T	ENSP00000424291.1:p.Trp144Cys
ENST00000508384.5:c.-1G>T	ENSP00000464289.1:n.-1G>T
ENST00000510434.1:c.432G>T	ENSP00000423051.1:p.Trp144Cys
ENST00000515760.1:n.566G>T
NM_002617.3:c.432G>T	NP_002608.1:p.Trp144Cys
NM_153818.1:c.432G>T	NP_722540.1:p.Trp144Cys
XM_011541573.1:c.432G>T	XP_011539875.1:p.Trp144Cys
XM_011541574.1:c.-1G>T	XP_011539876.1:n.-1G>T
XM_011541575.1:c.-1G>T	XP_011539877.1:n.-1G>T
XM_011541576.1:c.432G>T	XP_011539878.1:p.Trp144Cys
XR_946666.1:n.552G>T
XM_011541576.2:c.432G>T	XP_011539878.1:p.Trp144Cys
XR_946666.2:n.501G>T
NM_001374425.1:c.432G>T	NP_001361354.1:p.Trp144Cys
NM_001374426.1:c.-1G>T	NP_001361355.1:n.-1G>T
NM_001374427.1:c.-1G>T	NP_001361356.1:n.-1G>T
NM_002617.4:c.432G>T MANE Select	NP_002608.1:p.Trp144Cys
NM_153818.2:c.432G>T	NP_722540.1:p.Trp144Cys
NR_164636.1:n.551G>T