Canonical Allele Identifier: CA15098580
Gene: PEX14 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10506158A>G
GRCh37 chr1:g.10566215A>G
gnomAD v2:
1:10566215 A / G
gnomAD v3:
1:10506158 A / G
gnomAD v4:
chr1-10506158-A-G
Joint Max Group AF 0.36442548 (AMR)
Genomes Max Group AF 0.36442548 (AMR)
ClinVar RCV:
RCV001516868
ClinVar Variation:
225769
dbSNP:
616488
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10506158A>G , CM000663.2:g.10506158A>G GRCh38
NC_000001.10:g.10566215A>G , CM000663.1:g.10566215A>G GRCh37
NC_000001.9:g.10488802A>G NCBI36
NG_008340.1:g.36213A>G
NG_008340.2:g.36213A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356607.9:c.84+10837A>G MANE Select ENSP00000349016.4:n.84+10837A>G
ENST00000356607.8:c.84+10837A>G ENSP00000349016.4:n.84+10837A>G
ENST00000472851.1:n.341+10837A>G
ENST00000491661.2:c.69+10837A>G ENSP00000465473.1:n.69+10837A>G
NM_004565.2:c.84+10837A>G NP_004556.1:n.84+10837A>G
XM_011541577.1:c.126+10837A>G XP_011539879.1:n.126+10837A>G
XM_011541579.1:c.126+10837A>G XP_011539881.1:n.126+10837A>G
XM_011541580.1:c.84+10837A>G XP_011539882.1:n.84+10837A>G
XM_011541577.2:c.126+10837A>G XP_011539879.1:n.126+10837A>G
XM_011541579.3:c.126+10837A>G XP_011539881.1:n.126+10837A>G
XM_024447651.1:c.-109+10837A>G XP_024303419.1:n.-109+10837A>G
NM_004565.3:c.84+10837A>G MANE Select NP_004556.1:n.84+10837A>G
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