Canonical Allele Identifier: CA2613277247
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45909965-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909965G>A , CM000673.2:g.45909965G>A GRCh38
NC_000011.9:g.45931516G>A , CM000673.1:g.45931516G>A GRCh37
NC_000011.8:g.45888092G>A NCBI36
NG_008460.1:g.13159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*289C>T MANE Select ENSP00000368024.5:n.*289C>T
ENST00000241041.7:c.*124C>T ENSP00000241041.3:n.*124C>T
NM_004813.2:c.*289C>T NP_004804.1:n.*289C>T
NM_057174.2:c.*124C>T NP_476515.1:n.*124C>T
NM_004813.3:c.*289C>T NP_004804.1:n.*289C>T
NM_004813.4:c.*289C>T MANE Select NP_004804.2:n.*289C>T
NM_057174.3:c.*124C>T NP_476515.2:n.*124C>T
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