Canonical Allele Identifier: CA3811221
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42967478C>T
GRCh37 chr6:g.42935216C>T
Revel Score:
ENST00000304611 (MANE Select) 0.272
ENST00000244546 0.272
gnomAD v2:
6:42935216 C / T
gnomAD v3:
6:42967478 C / T
gnomAD v4:
chr6-42967478-C-T
Joint Max Group AF 0.00031937 (AMR)
Genomes Max Group AF 0.00009047 (NFE)
Exomes Max Group AF 0.00037314 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42967478C>T , CM000668.2:g.42967478C>T GRCh38
NC_000006.11:g.42935216C>T , CM000668.1:g.42935216C>T GRCh37
NC_000006.10:g.43043194C>T NCBI36
NG_008370.1:g.16766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1774G>A MANE Select ENSP00000303511.8:p.Glu592Lys
ENST00000244546.4:c.1774G>A ENSP00000244546.4:p.Glu592Lys
ENST00000304611.12:c.1774G>A ENSP00000303511.8:p.Glu592Lys
NM_000287.3:c.1774G>A NP_000278.3:p.Glu592Lys
NM_001316313.1:c.1510G>A NP_001303242.1:p.Glu504Lys
NR_133009.1:n.1867G>A
XM_011514661.1:c.1690G>A XP_011512963.1:p.Glu564Lys
XR_926246.1:n.1755G>A
XM_011514661.2:c.1690G>A XP_011512963.1:p.Glu564Lys
XR_001743466.2:n.2736G>A
NM_000287.4:c.1774G>A MANE Select NP_000278.3:p.Glu592Lys
NM_001316313.2:c.1510G>A NP_001303242.1:p.Glu504Lys
NR_133009.2:n.1805G>A
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