Canonical Allele Identifier: CA239465
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42966359G>A
GRCh37 chr6:g.42934097G>A
Revel Score:
ENST00000304611 (MANE Select) 0.866
gnomAD v2:
6:42934097 G / A
gnomAD v3:
6:42966359 G / A
gnomAD v4:
chr6-42966359-G-A
Joint Max Group AF 0.00001298 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42966359G>A , CM000668.2:g.42966359G>A GRCh38
NC_000006.11:g.42934097G>A , CM000668.1:g.42934097G>A GRCh37
NC_000006.10:g.43042075G>A NCBI36
NG_008370.1:g.17885C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2183C>T MANE Select ENSP00000303511.8:p.Pro728Leu
ENST00000244546.4:c.2115+145C>T ENSP00000244546.4:n.2115+145C>T
ENST00000304611.12:c.2183C>T ENSP00000303511.8:p.Pro728Leu
NM_000287.3:c.2183C>T NP_000278.3:p.Pro728Leu
NM_001316313.1:c.1919C>T NP_001303242.1:p.Pro640Leu
NR_133009.1:n.2208+145C>T
XM_011514661.1:c.2099C>T XP_011512963.1:p.Pro700Leu
XM_011514661.2:c.2099C>T XP_011512963.1:p.Pro700Leu
XR_001743466.2:n.3145C>T
NM_000287.4:c.2183C>T MANE Select NP_000278.3:p.Pro728Leu
NM_001316313.2:c.1919C>T NP_001303242.1:p.Pro640Leu
NR_133009.2:n.2146+145C>T
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