Canonical Allele Identifier: CA3811137
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42966541G>T
GRCh37 chr6:g.42934279G>T
Revel Score:
ENST00000304611 (MANE Select) 0.734
ENST00000244546 0.734
gnomAD v2:
6:42934279 G / T
gnomAD v3:
6:42966541 G / T
gnomAD v4:
chr6-42966541-G-T
Joint Max Group AF 0.00061929 (AMR)
Exomes Max Group AF 0.00081118 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42966541G>T , CM000668.2:g.42966541G>T GRCh38
NC_000006.11:g.42934279G>T , CM000668.1:g.42934279G>T GRCh37
NC_000006.10:g.43042257G>T NCBI36
NG_008370.1:g.17703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2078C>A MANE Select ENSP00000303511.8:p.Ala693Asp
ENST00000244546.4:c.2078C>A ENSP00000244546.4:p.Ala693Asp
ENST00000304611.12:c.2078C>A ENSP00000303511.8:p.Ala693Asp
NM_000287.3:c.2078C>A NP_000278.3:p.Ala693Asp
NM_001316313.1:c.1814C>A NP_001303242.1:p.Ala605Asp
NR_133009.1:n.2171C>A
XM_011514661.1:c.1994C>A XP_011512963.1:p.Ala665Asp
XM_011514661.2:c.1994C>A XP_011512963.1:p.Ala665Asp
XR_001743466.2:n.3040C>A
NM_000287.4:c.2078C>A MANE Select NP_000278.3:p.Ala693Asp
NM_001316313.2:c.1814C>A NP_001303242.1:p.Ala605Asp
NR_133009.2:n.2109C>A
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