Canonical Allele Identifier: CA537986

Gene: PEX10

Linked Data

• ClinVar Variation Id: 283862
• ClinVar RCV Id: RCV000403122 ; RCV000398333 ; RCV001086392 ; RCV001272149 ; RCV003930089
• dbSNP Id: rs78620392
• ExAC: 1:2337939 G / A
• gnomAD v2: 1-2337939-G-A
• gnomAD v3: 1-2406500-G-A
• gnomAD v4: 1-2406500-G-A
• COSMIC: COSM3785198
• MyVariant Identifiers: chr1:g.2337939G>A (hg19) ; chr1:g.2406500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406500G>A , CM000663.2:g.2406500G>A	GRCh38
NC_000001.10:g.2337939G>A , CM000663.1:g.2337939G>A	GRCh37
NC_000001.9:g.2327799G>A	NCBI36
NG_008342.1:g.11072C>T
NG_016128.1:g.19726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.956C>T	ENSP00000288774.3:p.Ala319Val
ENST00000447513.7:c.896C>T MANE Select	ENSP00000407922.2:p.Ala299Val
ENST00000650293.1:c.850C>T
ENST00000288774.7:c.956C>T	ENSP00000288774.3:p.Ala319Val
ENST00000447513.6:c.896C>T	ENSP00000407922.2:p.Ala299Val
ENST00000507596.5:c.896C>T	ENSP00000424291.1:p.Ala299Val
NM_002617.3:c.896C>T	NP_002608.1:p.Ala299Val
NM_153818.1:c.956C>T	NP_722540.1:p.Ala319Val
XM_011541573.1:c.953C>T	XP_011539875.1:p.Ala318Val
XM_011541574.1:c.521C>T	XP_011539876.1:p.Ala174Val
XM_011541575.1:c.521C>T	XP_011539877.1:p.Ala174Val
XR_946666.1:n.1012C>T
XR_946666.2:n.961C>T
NM_001374425.1:c.953C>T	NP_001361354.1:p.Ala318Val
NM_001374426.1:c.521C>T	NP_001361355.1:p.Ala174Val
NM_001374427.1:c.464C>T	NP_001361356.1:p.Ala155Val
NM_002617.4:c.896C>T MANE Select	NP_002608.1:p.Ala299Val
NM_153818.2:c.956C>T	NP_722540.1:p.Ala319Val
NR_164636.1:n.1011C>T