Canonical Allele Identifier: CA2574806356
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45910024-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910024G>T , CM000673.2:g.45910024G>T GRCh38
NC_000011.9:g.45931575G>T , CM000673.1:g.45931575G>T GRCh37
NC_000011.8:g.45888151G>T NCBI36
NG_008460.1:g.13100C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*230C>A MANE Select ENSP00000368024.5:n.*230C>A
ENST00000241041.7:c.*65C>A ENSP00000241041.3:n.*65C>A
NM_004813.2:c.*230C>A NP_004804.1:n.*230C>A
NM_057174.2:c.*65C>A NP_476515.1:n.*65C>A
NM_004813.3:c.*230C>A NP_004804.1:n.*230C>A
NM_004813.4:c.*230C>A MANE Select NP_004804.2:n.*230C>A
NM_057174.3:c.*65C>A NP_476515.2:n.*65C>A
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