Canonical Allele Identifier: CA538220

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1947146
• ClinVar RCV Id: RCV002685424
• dbSNP Id: rs763092580
• ExAC: 1:2340194 A / C
• gnomAD v2: 1-2340194-A-C
• gnomAD v3: 1-2408755-A-C
• gnomAD v4: 1-2408755-A-C
• MyVariant Identifiers: chr1:g.2340194A>C (hg19) ; chr1:g.2408755A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408755A>C , CM000663.2:g.2408755A>C	GRCh38
NC_000001.10:g.2340194A>C , CM000663.1:g.2340194A>C	GRCh37
NC_000001.9:g.2330054A>C	NCBI36
NG_008342.1:g.8817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.297T>G	ENSP00000288774.3:p.His99Gln
ENST00000447513.7:c.297T>G MANE Select	ENSP00000407922.2:p.His99Gln
ENST00000650293.1:c.251T>G
ENST00000288774.7:c.297T>G	ENSP00000288774.3:p.His99Gln
ENST00000447513.6:c.297T>G	ENSP00000407922.2:p.His99Gln
ENST00000502666.1:c.502T>G	ENSP00000461951.1:n.502T>G
ENST00000507596.5:c.297T>G	ENSP00000424291.1:p.His99Gln
ENST00000508384.5:c.-136T>G	ENSP00000464289.1:n.-136T>G
ENST00000510434.1:c.297T>G	ENSP00000423051.1:p.His99Gln
ENST00000514502.1:c.*314T>G	ENSP00000425924.1:n.*314T>G
ENST00000515760.1:n.431T>G
NM_002617.3:c.297T>G	NP_002608.1:p.His99Gln
NM_153818.1:c.297T>G	NP_722540.1:p.His99Gln
XM_011541573.1:c.297T>G	XP_011539875.1:p.His99Gln
XM_011541574.1:c.-136T>G	XP_011539876.1:n.-136T>G
XM_011541575.1:c.-136T>G	XP_011539877.1:n.-136T>G
XM_011541576.1:c.297T>G	XP_011539878.1:p.His99Gln
XR_946666.1:n.417T>G
XM_011541576.2:c.297T>G	XP_011539878.1:p.His99Gln
XR_946666.2:n.366T>G
NM_001374425.1:c.297T>G	NP_001361354.1:p.His99Gln
NM_001374426.1:c.-136T>G	NP_001361355.1:n.-136T>G
NM_001374427.1:c.-136T>G	NP_001361356.1:n.-136T>G
NM_002617.4:c.297T>G MANE Select	NP_002608.1:p.His99Gln
NM_153818.2:c.297T>G	NP_722540.1:p.His99Gln
NR_164636.1:n.416T>G