Canonical Allele Identifier: CA415775793

Gene: PEX10

Linked Data

• ClinVar Variation Id: 796733
• ClinVar RCV Id: RCV001502443
• dbSNP Id: rs1557910280
• gnomAD v4: 1-2408560-G-C
• MyVariant Identifiers: chr1:g.2339999G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408560G>C , CM000663.2:g.2408560G>C	GRCh38
NC_000001.10:g.2339999G>C , CM000663.1:g.2339999G>C	GRCh37
NC_000001.9:g.2329859G>C	NCBI36
NG_008342.1:g.9012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.492C>G	ENSP00000288774.3:p.Val164=
ENST00000447513.7:c.492C>G MANE Select	ENSP00000407922.2:p.Val164=
ENST00000650293.1:c.446C>G
ENST00000288774.7:c.492C>G	ENSP00000288774.3:p.Val164=
ENST00000447513.6:c.492C>G	ENSP00000407922.2:p.Val164=
ENST00000507596.5:c.492C>G	ENSP00000424291.1:p.Val164=
ENST00000508384.5:c.60C>G	ENSP00000464289.1:p.Val20=
ENST00000510434.1:c.492C>G	ENSP00000423051.1:p.Val164=
NM_002617.3:c.492C>G	NP_002608.1:p.Val164=
NM_153818.1:c.492C>G	NP_722540.1:p.Val164=
XM_011541573.1:c.492C>G	XP_011539875.1:p.Val164=
XM_011541574.1:c.60C>G	XP_011539876.1:p.Val20=
XM_011541575.1:c.60C>G	XP_011539877.1:p.Val20=
XM_011541576.1:c.492C>G	XP_011539878.1:p.Val164=
XR_946666.1:n.612C>G
XM_011541576.2:c.492C>G	XP_011539878.1:p.Val164=
XR_946666.2:n.561C>G
NM_001374425.1:c.492C>G	NP_001361354.1:p.Val164=
NM_001374426.1:c.60C>G	NP_001361355.1:p.Val20=
NM_001374427.1:c.60C>G	NP_001361356.1:p.Val20=
NM_002617.4:c.492C>G MANE Select	NP_002608.1:p.Val164=
NM_153818.2:c.492C>G	NP_722540.1:p.Val164=
NR_164636.1:n.611C>G