Canonical Allele Identifier: CA2613277676
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45910058-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910058G>C , CM000673.2:g.45910058G>C GRCh38
NC_000011.9:g.45931609G>C , CM000673.1:g.45931609G>C GRCh37
NC_000011.8:g.45888185G>C NCBI36
NG_008460.1:g.13066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*196C>G MANE Select ENSP00000368024.5:n.*196C>G
ENST00000241041.7:c.*31C>G ENSP00000241041.3:n.*31C>G
NM_004813.2:c.*196C>G NP_004804.1:n.*196C>G
NM_057174.2:c.*31C>G NP_476515.1:n.*31C>G
NM_004813.3:c.*196C>G NP_004804.1:n.*196C>G
NM_004813.4:c.*196C>G MANE Select NP_004804.2:n.*196C>G
NM_057174.3:c.*31C>G NP_476515.2:n.*31C>G
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