Canonical Allele Identifier: CA3811387
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42969811G>A
GRCh37 chr6:g.42937549G>A
gnomAD v2:
6:42937549 G / A
gnomAD v3:
6:42969811 G / A
gnomAD v4:
chr6-42969811-G-A
Joint Max Group AF 0.00005317 (AFR)
Genomes Max Group AF 0.00003271 (AFR)
Exomes Max Group AF 0.00004101 (AFR)
ClinVar RCV:
RCV000318534
RCV001442722
ClinVar Variation:
356798
dbSNP:
370661410
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969811G>A , CM000668.2:g.42969811G>A GRCh38
NC_000006.11:g.42937549G>A , CM000668.1:g.42937549G>A GRCh37
NC_000006.10:g.43045527G>A NCBI36
NG_008370.1:g.14433C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1234-10C>T MANE Select ENSP00000303511.8:n.1234-10C>T
ENST00000244546.4:c.1234-10C>T ENSP00000244546.4:n.1234-10C>T
ENST00000304611.12:c.1234-10C>T ENSP00000303511.8:n.1234-10C>T
NM_000287.3:c.1234-10C>T NP_000278.3:n.1234-10C>T
NM_001316313.1:c.970-10C>T NP_001303242.1:n.970-10C>T
NR_133009.1:n.1327-10C>T
XM_011514661.1:c.1150-10C>T XP_011512963.1:n.1150-10C>T
XR_926246.1:n.1327-10C>T
XM_011514661.2:c.1150-10C>T XP_011512963.1:n.1150-10C>T
XR_001743466.2:n.2308-10C>T
NM_000287.4:c.1234-10C>T MANE Select NP_000278.3:n.1234-10C>T
NM_001316313.2:c.970-10C>T NP_001303242.1:n.970-10C>T
NR_133009.2:n.1265-10C>T
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