Canonical Allele Identifier: CA3811225
Gene: PEX6 HGNC NCBI
COSMIC:
COSM6409920 (not active)
MyVariant.info:
GRCh38 chr6:g.42967495G>A
GRCh37 chr6:g.42935233G>A
Revel Score:
ENST00000304611 (MANE Select) 0.777
ENST00000244546 0.777
gnomAD v2:
6:42935233 G / A
gnomAD v3:
6:42967495 G / A
gnomAD v4:
chr6-42967495-G-A
Joint Max Group AF 0.00084096 (AFR)
Genomes Max Group AF 0.00095767 (AFR)
Exomes Max Group AF 0.00054405 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42967495G>A , CM000668.2:g.42967495G>A GRCh38
NC_000006.11:g.42935233G>A , CM000668.1:g.42935233G>A GRCh37
NC_000006.10:g.43043211G>A NCBI36
NG_008370.1:g.16749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1757C>T MANE Select ENSP00000303511.8:p.Ala586Val
ENST00000244546.4:c.1757C>T ENSP00000244546.4:p.Ala586Val
ENST00000304611.12:c.1757C>T ENSP00000303511.8:p.Ala586Val
NM_000287.3:c.1757C>T NP_000278.3:p.Ala586Val
NM_001316313.1:c.1493C>T NP_001303242.1:p.Ala498Val
NR_133009.1:n.1850C>T
XM_011514661.1:c.1673C>T XP_011512963.1:p.Ala558Val
XR_926246.1:n.1738C>T
XM_011514661.2:c.1673C>T XP_011512963.1:p.Ala558Val
XR_001743466.2:n.2719C>T
NM_000287.4:c.1757C>T MANE Select NP_000278.3:p.Ala586Val
NM_001316313.2:c.1493C>T NP_001303242.1:p.Ala498Val
NR_133009.2:n.1788C>T
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