Canonical Allele Identifier: CA247651
Gene: PEX16 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.45914209G>A
GRCh37 chr11:g.45935760G>A
gnomAD v2:
11:45935760 G / A
gnomAD v3:
11:45914209 G / A
gnomAD v4:
chr11-45914209-G-A
Joint Max Group AF 0.00054663 (NFE)
Genomes Max Group AF 0.00036794 (NFE)
Exomes Max Group AF 0.00055037 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45914209G>A , CM000673.2:g.45914209G>A GRCh38
NC_000011.9:g.45935760G>A , CM000673.1:g.45935760G>A GRCh37
NC_000011.8:g.45892336G>A NCBI36
NG_008460.1:g.8915C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.695-6C>T MANE Select ENSP00000368024.5:n.695-6C>T
ENST00000241041.7:c.695-6C>T ENSP00000241041.3:n.695-6C>T
ENST00000378750.9:c.695-6C>T ENSP00000368024.5:n.695-6C>T
ENST00000525192.5:c.410-6C>T ENSP00000431309.1:n.410-6C>T
ENST00000532554.5:n.466-6C>T
ENST00000532681.5:c.410-6C>T ENSP00000434654.1:n.410-6C>T
ENST00000533151.5:c.383-6C>T ENSP00000433045.1:n.383-6C>T
NM_004813.2:c.695-6C>T NP_004804.1:n.695-6C>T
NM_057174.2:c.695-6C>T NP_476515.1:n.695-6C>T
XM_011520474.1:c.572-6C>T XP_011518776.1:n.572-6C>T
NM_004813.3:c.695-6C>T NP_004804.1:n.695-6C>T
NM_004813.4:c.695-6C>T MANE Select NP_004804.2:n.695-6C>T
NM_057174.3:c.695-6C>T NP_476515.2:n.695-6C>T
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