Canonical Allele Identifier: CA2613277279
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45909969-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909969C>T , CM000673.2:g.45909969C>T GRCh38
NC_000011.9:g.45931520C>T , CM000673.1:g.45931520C>T GRCh37
NC_000011.8:g.45888096C>T NCBI36
NG_008460.1:g.13155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*285G>A MANE Select ENSP00000368024.5:n.*285G>A
ENST00000241041.7:c.*120G>A ENSP00000241041.3:n.*120G>A
NM_004813.2:c.*285G>A NP_004804.1:n.*285G>A
NM_057174.2:c.*120G>A NP_476515.1:n.*120G>A
NM_004813.3:c.*285G>A NP_004804.1:n.*285G>A
NM_004813.4:c.*285G>A MANE Select NP_004804.2:n.*285G>A
NM_057174.3:c.*120G>A NP_476515.2:n.*120G>A
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