Canonical Allele Identifier: CA5959786
Gene: PEX16 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.45913810G>T
GRCh37 chr11:g.45935361G>T
gnomAD v2:
11:45935361 G / T
gnomAD v3:
11:45913810 G / T
gnomAD v4:
chr11-45913810-G-T
Joint Max Group AF 0.00051879 (AFR)
Genomes Max Group AF 0.00062133 (AFR)
Exomes Max Group AF 0.00027561 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45913810G>T , CM000673.2:g.45913810G>T GRCh38
NC_000011.9:g.45935361G>T , CM000673.1:g.45935361G>T GRCh37
NC_000011.8:g.45891937G>T NCBI36
NG_008460.1:g.9314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.887+9C>A MANE Select ENSP00000368024.5:n.887+9C>A
ENST00000241041.7:c.887+9C>A ENSP00000241041.3:n.887+9C>A
ENST00000378750.9:c.887+9C>A ENSP00000368024.5:n.887+9C>A
ENST00000532681.5:c.602+9C>A ENSP00000434654.1:n.602+9C>A
NM_004813.2:c.887+9C>A NP_004804.1:n.887+9C>A
NM_057174.2:c.887+9C>A NP_476515.1:n.887+9C>A
XM_011520474.1:c.764+9C>A XP_011518776.1:n.764+9C>A
NM_004813.3:c.887+9C>A NP_004804.1:n.887+9C>A
NM_004813.4:c.887+9C>A MANE Select NP_004804.2:n.887+9C>A
NM_057174.3:c.887+9C>A NP_476515.2:n.887+9C>A
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