Canonical Allele Identifier: CA146010
Gene: PEX6 HGNC NCBI
COSMIC:
COSM1444600 (not active)
MyVariant.info:
GRCh38 chr6:g.42964462G>T
GRCh37 chr6:g.42932200G>T
Revel Score:
ENST00000304611 (MANE Select) 0.225
gnomAD v2:
6:42932200 G / T
gnomAD v3:
6:42964462 G / T
gnomAD v4:
chr6-42964462-G-T
Joint Max Group AF 0.45226514 (NFE)
Genomes Max Group AF 0.44840162 (NFE)
Exomes Max Group AF 0.45227411 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42964462G>T , CM000668.2:g.42964462G>T GRCh38
NC_000006.11:g.42932200G>T , CM000668.1:g.42932200G>T GRCh37
NC_000006.10:g.43040178G>T NCBI36
NG_008370.1:g.19782C>A
NG_008396.1:g.8701G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2816C>A MANE Select ENSP00000303511.8:p.Pro939Gln
ENST00000244546.4:c.2569C>A ENSP00000244546.4:n.2569C>A
ENST00000304611.12:c.2816C>A ENSP00000303511.8:p.Pro939Gln
NM_000287.3:c.2816C>A NP_000278.3:p.Pro939Gln
NM_001316313.1:c.2552C>A NP_001303242.1:p.Pro851Gln
NR_133009.1:n.2662C>A
XM_011514661.1:c.2732C>A XP_011512963.1:p.Pro911Gln
XM_011514661.2:c.2732C>A XP_011512963.1:p.Pro911Gln
XR_001743466.2:n.3778C>A
NM_000287.4:c.2816C>A MANE Select NP_000278.3:p.Pro939Gln
NM_001316313.2:c.2552C>A NP_001303242.1:p.Pro851Gln
NR_133009.2:n.2600C>A
Search 100 bp 5'
Search 100 bp 3'