Canonical Allele Identifier: CA3811462
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42974090C>A
GRCh37 chr6:g.42941828C>A
gnomAD v2:
6:42941828 C / A
gnomAD v3:
6:42974090 C / A
gnomAD v4:
chr6-42974090-C-A
Joint Max Group AF 0.00004286 (AMR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004359 (AMR)
ClinVar RCV:
RCV000596716
RCV001079046
ClinVar Variation:
499622
dbSNP:
748779475
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42974090C>A , CM000668.2:g.42974090C>A GRCh38
NC_000006.11:g.42941828C>A , CM000668.1:g.42941828C>A GRCh37
NC_000006.10:g.43049806C>A NCBI36
NG_008370.1:g.10154G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1047-4G>T MANE Select ENSP00000303511.8:n.1047-4G>T
ENST00000244546.4:c.1047-4G>T ENSP00000244546.4:n.1047-4G>T
ENST00000304611.12:c.1047-4G>T ENSP00000303511.8:n.1047-4G>T
NM_000287.3:c.1047-4G>T NP_000278.3:n.1047-4G>T
NM_001316313.1:c.783-4G>T NP_001303242.1:n.783-4G>T
NR_133009.1:n.1140-4G>T
XM_011514661.1:c.1046+785G>T XP_011512963.1:n.1046+785G>T
XR_926246.1:n.1140-4G>T
XM_011514661.2:c.1046+785G>T XP_011512963.1:n.1046+785G>T
XR_001743466.2:n.2121-4G>T
NM_000287.4:c.1047-4G>T MANE Select NP_000278.3:n.1047-4G>T
NM_001316313.2:c.783-4G>T NP_001303242.1:n.783-4G>T
NR_133009.2:n.1078-4G>T
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