Canonical Allele Identifier: CA2613277565
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45910027-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910027G>C , CM000673.2:g.45910027G>C GRCh38
NC_000011.9:g.45931578G>C , CM000673.1:g.45931578G>C GRCh37
NC_000011.8:g.45888154G>C NCBI36
NG_008460.1:g.13097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*227C>G MANE Select ENSP00000368024.5:n.*227C>G
ENST00000241041.7:c.*62C>G ENSP00000241041.3:n.*62C>G
NM_004813.2:c.*227C>G NP_004804.1:n.*227C>G
NM_057174.2:c.*62C>G NP_476515.1:n.*62C>G
NM_004813.3:c.*227C>G NP_004804.1:n.*227C>G
NM_004813.4:c.*227C>G MANE Select NP_004804.2:n.*227C>G
NM_057174.3:c.*62C>G NP_476515.2:n.*62C>G
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