Canonical Allele Identifier: CA337987777

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2164357
• ClinVar RCV Id: RCV003073586
• dbSNP Id: rs1442218906
• gnomAD v2: 1-2340047-G-T
• gnomAD v4: 1-2408608-G-T
• MyVariant Identifiers: chr1:g.2340047G>T (hg19) ; chr1:g.2340047_2340059delinsTTGGTGACGCATC (hg19) ; chr1:g.2408608G>T (hg38) ; chr1:g.2408608_2408620delinsTTGGTGACGCATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408608G>T , CM000663.2:g.2408608G>T	GRCh38
NC_000001.10:g.2340047G>T , CM000663.1:g.2340047G>T	GRCh37
NC_000001.9:g.2329907G>T	NCBI36
NG_008342.1:g.8964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.444C>A	ENSP00000288774.3:p.His148Gln
ENST00000447513.7:c.444C>A MANE Select	ENSP00000407922.2:p.His148Gln
ENST00000650293.1:c.398C>A
ENST00000288774.7:c.444C>A	ENSP00000288774.3:p.His148Gln
ENST00000447513.6:c.444C>A	ENSP00000407922.2:p.His148Gln
ENST00000502666.1:c.649C>A	ENSP00000461951.1:n.649C>A
ENST00000507596.5:c.444C>A	ENSP00000424291.1:p.His148Gln
ENST00000508384.5:c.12C>A	ENSP00000464289.1:p.His4Gln
ENST00000510434.1:c.444C>A	ENSP00000423051.1:p.His148Gln
ENST00000515760.1:n.578C>A
NM_002617.3:c.444C>A	NP_002608.1:p.His148Gln
NM_153818.1:c.444C>A	NP_722540.1:p.His148Gln
XM_011541573.1:c.444C>A	XP_011539875.1:p.His148Gln
XM_011541574.1:c.12C>A	XP_011539876.1:p.His4Gln
XM_011541575.1:c.12C>A	XP_011539877.1:p.His4Gln
XM_011541576.1:c.444C>A	XP_011539878.1:p.His148Gln
XR_946666.1:n.564C>A
XM_011541576.2:c.444C>A	XP_011539878.1:p.His148Gln
XR_946666.2:n.513C>A
NM_001374425.1:c.444C>A	NP_001361354.1:p.His148Gln
NM_001374426.1:c.12C>A	NP_001361355.1:p.His4Gln
NM_001374427.1:c.12C>A	NP_001361356.1:p.His4Gln
NM_002617.4:c.444C>A MANE Select	NP_002608.1:p.His148Gln
NM_153818.2:c.444C>A	NP_722540.1:p.His148Gln
NR_164636.1:n.563C>A