Canonical Allele Identifier: CA380222956
Gene: PEX16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.45931705A>C (hg19) chr11:g.45910154A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910154A>C , CM000673.2:g.45910154A>C GRCh38
NC_000011.9:g.45931705A>C , CM000673.1:g.45931705A>C GRCh37
NC_000011.8:g.45888281A>C NCBI36
NG_008460.1:g.12970T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*100T>G MANE Select ENSP00000368024.5:n.*100T>G
ENST00000241041.7:c.976T>G ENSP00000241041.3:p.Cys326Gly
NM_004813.2:c.*100T>G NP_004804.1:n.*100T>G
NM_057174.2:c.976T>G NP_476515.1:p.Cys326Gly
NM_004813.3:c.*100T>G NP_004804.1:n.*100T>G
NM_004813.4:c.*100T>G MANE Select NP_004804.2:n.*100T>G
NM_057174.3:c.976T>G NP_476515.2:p.Cys326Gly
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