Canonical Allele Identifier: CA415775821

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2025154
• ClinVar RCV Id: RCV002848227
• dbSNP Id: rs570706924
• gnomAD v2: 1-2340007-G-T
• gnomAD v3: 1-2408568-G-T
• gnomAD v4: 1-2408568-G-T
• MyVariant Identifiers: chr1:g.2340007G>T (hg19) ; chr1:g.2408568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408568G>T , CM000663.2:g.2408568G>T	GRCh38
NC_000001.10:g.2340007G>T , CM000663.1:g.2340007G>T	GRCh37
NC_000001.9:g.2329867G>T	NCBI36
NG_008342.1:g.9004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.484C>A	ENSP00000288774.3:p.Arg162=
ENST00000447513.7:c.484C>A MANE Select	ENSP00000407922.2:p.Arg162=
ENST00000650293.1:c.438C>A
ENST00000288774.7:c.484C>A	ENSP00000288774.3:p.Arg162=
ENST00000447513.6:c.484C>A	ENSP00000407922.2:p.Arg162=
ENST00000507596.5:c.484C>A	ENSP00000424291.1:p.Arg162=
ENST00000508384.5:c.52C>A	ENSP00000464289.1:p.Arg18=
ENST00000510434.1:c.484C>A	ENSP00000423051.1:p.Arg162=
NM_002617.3:c.484C>A	NP_002608.1:p.Arg162=
NM_153818.1:c.484C>A	NP_722540.1:p.Arg162=
XM_011541573.1:c.484C>A	XP_011539875.1:p.Arg162=
XM_011541574.1:c.52C>A	XP_011539876.1:p.Arg18=
XM_011541575.1:c.52C>A	XP_011539877.1:p.Arg18=
XM_011541576.1:c.484C>A	XP_011539878.1:p.Arg162=
XR_946666.1:n.604C>A
XM_011541576.2:c.484C>A	XP_011539878.1:p.Arg162=
XR_946666.2:n.553C>A
NM_001374425.1:c.484C>A	NP_001361354.1:p.Arg162=
NM_001374426.1:c.52C>A	NP_001361355.1:p.Arg18=
NM_001374427.1:c.52C>A	NP_001361356.1:p.Arg18=
NM_002617.4:c.484C>A MANE Select	NP_002608.1:p.Arg162=
NM_153818.2:c.484C>A	NP_722540.1:p.Arg162=
NR_164636.1:n.603C>A