Canonical Allele Identifier: CA3811388
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42969812T>C
GRCh37 chr6:g.42937550T>C
gnomAD v2:
6:42937550 T / C
gnomAD v3:
6:42969812 T / C
gnomAD v4:
chr6-42969812-T-C
Joint Max Group AF 0.00061928 (NFE)
Genomes Max Group AF 0.00086712 (AMR)
Exomes Max Group AF 0.00062656 (NFE)
ClinVar RCV:
RCV000356970
RCV001452054
ClinVar Variation:
356799
dbSNP:
201879957
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969812T>C , CM000668.2:g.42969812T>C GRCh38
NC_000006.11:g.42937550T>C , CM000668.1:g.42937550T>C GRCh37
NC_000006.10:g.43045528T>C NCBI36
NG_008370.1:g.14432A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1234-11A>G MANE Select ENSP00000303511.8:n.1234-11A>G
ENST00000244546.4:c.1234-11A>G ENSP00000244546.4:n.1234-11A>G
ENST00000304611.12:c.1234-11A>G ENSP00000303511.8:n.1234-11A>G
NM_000287.3:c.1234-11A>G NP_000278.3:n.1234-11A>G
NM_001316313.1:c.970-11A>G NP_001303242.1:n.970-11A>G
NR_133009.1:n.1327-11A>G
XM_011514661.1:c.1150-11A>G XP_011512963.1:n.1150-11A>G
XR_926246.1:n.1327-11A>G
XM_011514661.2:c.1150-11A>G XP_011512963.1:n.1150-11A>G
XR_001743466.2:n.2308-11A>G
NM_000287.4:c.1234-11A>G MANE Select NP_000278.3:n.1234-11A>G
NM_001316313.2:c.970-11A>G NP_001303242.1:n.970-11A>G
NR_133009.2:n.1265-11A>G
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