Canonical Allele Identifier: CA537986
Gene: PEX10 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2406500G>A
GRCh37 chr1:g.2337939G>A
Revel Score:
ENST00000288774 0.115
ENST00000447513 (MANE Select) 0.115
ENST00000507596 0.115
gnomAD v2:
1:2337939 G / A
gnomAD v3:
1:2406500 G / A
gnomAD v4:
chr1-2406500-G-A
Joint Max Group AF 0.0015764 (AFR)
Genomes Max Group AF 0.00138805 (AFR)
Exomes Max Group AF 0.00159011 (AFR)
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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
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