Canonical Allele Identifier: CA10603898
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42966394C>T
GRCh37 chr6:g.42934132C>T
gnomAD v3:
6:42966394 C / T
gnomAD v4:
chr6-42966394-C-T
Joint Max Group AF 0.00001298 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
ClinVar RCV:
RCV000339687
RCV002059081
ClinVar Variation:
281492
dbSNP:
766104579
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42966394C>T , CM000668.2:g.42966394C>T GRCh38
NC_000006.11:g.42934132C>T , CM000668.1:g.42934132C>T GRCh37
NC_000006.10:g.43042110C>T NCBI36
NG_008370.1:g.17850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2148G>A MANE Select ENSP00000303511.8:p.Glu716=
ENST00000244546.4:c.2115+110G>A ENSP00000244546.4:n.2115+110G>A
ENST00000304611.12:c.2148G>A ENSP00000303511.8:p.Glu716=
NM_000287.3:c.2148G>A NP_000278.3:p.Glu716=
NM_001316313.1:c.1884G>A NP_001303242.1:p.Glu628=
NR_133009.1:n.2208+110G>A
XM_011514661.1:c.2064G>A XP_011512963.1:p.Glu688=
XM_011514661.2:c.2064G>A XP_011512963.1:p.Glu688=
XR_001743466.2:n.3110G>A
NM_000287.4:c.2148G>A MANE Select NP_000278.3:p.Glu716=
NM_001316313.2:c.1884G>A NP_001303242.1:p.Glu628=
NR_133009.2:n.2146+110G>A
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