Canonical Allele Identifier: CA3811234
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42967534G>A
GRCh37 chr6:g.42935272G>A
Revel Score:
ENST00000304611 (MANE Select) 0.872
ENST00000244546 0.872
gnomAD v2:
6:42935272 G / A
gnomAD v3:
6:42967534 G / A
gnomAD v4:
chr6-42967534-G-A
Joint Max Group AF 0.00247503 (NFE)
Genomes Max Group AF 0.001959 (NFE)
Exomes Max Group AF 0.00249072 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42967534G>A , CM000668.2:g.42967534G>A GRCh38
NC_000006.11:g.42935272G>A , CM000668.1:g.42935272G>A GRCh37
NC_000006.10:g.43043250G>A NCBI36
NG_008370.1:g.16710C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1718C>T MANE Select ENSP00000303511.8:p.Thr573Ile
ENST00000244546.4:c.1718C>T ENSP00000244546.4:p.Thr573Ile
ENST00000304611.12:c.1718C>T ENSP00000303511.8:p.Thr573Ile
NM_000287.3:c.1718C>T NP_000278.3:p.Thr573Ile
NM_001316313.1:c.1454C>T NP_001303242.1:p.Thr485Ile
NR_133009.1:n.1811C>T
XM_011514661.1:c.1634C>T XP_011512963.1:p.Thr545Ile
XR_926246.1:n.1699C>T
XM_011514661.2:c.1634C>T XP_011512963.1:p.Thr545Ile
XR_001743466.2:n.2680C>T
NM_000287.4:c.1718C>T MANE Select NP_000278.3:p.Thr573Ile
NM_001316313.2:c.1454C>T NP_001303242.1:p.Thr485Ile
NR_133009.2:n.1749C>T
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