Canonical Allele Identifier: CA337988681

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1349675
• ClinVar RCV Id: RCV002047103
• dbSNP Id: rs1299562078
• gnomAD v3: 1-2408745-G-C
• gnomAD v4: 1-2408745-G-C
• MyVariant Identifiers: chr1:g.2340184G>C (hg19) ; chr1:g.2408745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408745G>C , CM000663.2:g.2408745G>C	GRCh38
NC_000001.10:g.2340184G>C , CM000663.1:g.2340184G>C	GRCh37
NC_000001.9:g.2330044G>C	NCBI36
NG_008342.1:g.8827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.307C>G	ENSP00000288774.3:p.Pro103Ala
ENST00000447513.7:c.307C>G MANE Select	ENSP00000407922.2:p.Pro103Ala
ENST00000650293.1:c.261C>G
ENST00000288774.7:c.307C>G	ENSP00000288774.3:p.Pro103Ala
ENST00000447513.6:c.307C>G	ENSP00000407922.2:p.Pro103Ala
ENST00000502666.1:c.512C>G	ENSP00000461951.1:n.512C>G
ENST00000507596.5:c.307C>G	ENSP00000424291.1:p.Pro103Ala
ENST00000508384.5:c.-126C>G	ENSP00000464289.1:n.-126C>G
ENST00000510434.1:c.307C>G	ENSP00000423051.1:p.Pro103Ala
ENST00000515760.1:n.441C>G
NM_002617.3:c.307C>G	NP_002608.1:p.Pro103Ala
NM_153818.1:c.307C>G	NP_722540.1:p.Pro103Ala
XM_011541573.1:c.307C>G	XP_011539875.1:p.Pro103Ala
XM_011541574.1:c.-126C>G	XP_011539876.1:n.-126C>G
XM_011541575.1:c.-126C>G	XP_011539877.1:n.-126C>G
XM_011541576.1:c.307C>G	XP_011539878.1:p.Pro103Ala
XR_946666.1:n.427C>G
XM_011541576.2:c.307C>G	XP_011539878.1:p.Pro103Ala
XR_946666.2:n.376C>G
NM_001374425.1:c.307C>G	NP_001361354.1:p.Pro103Ala
NM_001374426.1:c.-126C>G	NP_001361355.1:n.-126C>G
NM_001374427.1:c.-126C>G	NP_001361356.1:n.-126C>G
NM_002617.4:c.307C>G MANE Select	NP_002608.1:p.Pro103Ala
NM_153818.2:c.307C>G	NP_722540.1:p.Pro103Ala
NR_164636.1:n.426C>G