Canonical Allele Identifier: CA5959717
Gene: PEX16 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.45910263A>G
GRCh37 chr11:g.45931814A>G
gnomAD v2:
11:45931814 A / G
gnomAD v3:
11:45910263 A / G
gnomAD v4:
chr11-45910263-A-G
Joint Max Group AF 0.00005433 (AMR)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00005805 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910263A>G , CM000673.2:g.45910263A>G GRCh38
NC_000011.9:g.45931814A>G , CM000673.1:g.45931814A>G GRCh37
NC_000011.8:g.45888390A>G NCBI36
NG_008460.1:g.12861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.1002T>C MANE Select ENSP00000368024.5:p.Ser334=
ENST00000241041.7:c.953-86T>C ENSP00000241041.3:n.953-86T>C
ENST00000378750.9:c.1002T>C ENSP00000368024.5:p.Ser334=
ENST00000523721.2:n.232T>C
ENST00000532681.5:c.717T>C ENSP00000434654.1:p.Ser239=
NM_004813.2:c.1002T>C NP_004804.1:p.Ser334=
NM_057174.2:c.953-86T>C NP_476515.1:n.953-86T>C
XM_011520474.1:c.879T>C XP_011518776.1:p.Ser293=
NM_004813.3:c.1002T>C NP_004804.1:p.Ser334=
NM_004813.4:c.1002T>C MANE Select NP_004804.2:p.Ser334=
NM_057174.3:c.953-86T>C NP_476515.2:n.953-86T>C
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