Canonical Allele Identifier: CA5959719
Gene: PEX16 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.45910266G>A
GRCh37 chr11:g.45931817G>A
gnomAD v2:
11:45931817 G / A
gnomAD v3:
11:45910266 G / A
gnomAD v4:
chr11-45910266-G-A
Joint Max Group AF 0.00039755 (NFE)
Genomes Max Group AF 0.00020673 (NFE)
Exomes Max Group AF 0.00040386 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910266G>A , CM000673.2:g.45910266G>A GRCh38
NC_000011.9:g.45931817G>A , CM000673.1:g.45931817G>A GRCh37
NC_000011.8:g.45888393G>A NCBI36
NG_008460.1:g.12858C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.999C>T MANE Select ENSP00000368024.5:p.Tyr333=
ENST00000241041.7:c.953-89C>T ENSP00000241041.3:n.953-89C>T
ENST00000378750.9:c.999C>T ENSP00000368024.5:p.Tyr333=
ENST00000523721.2:n.229C>T
ENST00000532681.5:c.714C>T ENSP00000434654.1:p.Tyr238=
NM_004813.2:c.999C>T NP_004804.1:p.Tyr333=
NM_057174.2:c.953-89C>T NP_476515.1:n.953-89C>T
XM_011520474.1:c.876C>T XP_011518776.1:p.Tyr292=
NM_004813.3:c.999C>T NP_004804.1:p.Tyr333=
NM_004813.4:c.999C>T MANE Select NP_004804.2:p.Tyr333=
NM_057174.3:c.953-89C>T NP_476515.2:n.953-89C>T
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