Canonical Allele Identifier: CA380223030
Gene: PEX16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.45931721C>G (hg19) chr11:g.45910170C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910170C>G , CM000673.2:g.45910170C>G GRCh38
NC_000011.9:g.45931721C>G , CM000673.1:g.45931721C>G GRCh37
NC_000011.8:g.45888297C>G NCBI36
NG_008460.1:g.12954G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*84G>C MANE Select ENSP00000368024.5:n.*84G>C
ENST00000241041.7:c.960G>C ENSP00000241041.3:p.Gln320His
ENST00000523721.2:n.325G>C
NM_004813.2:c.*84G>C NP_004804.1:n.*84G>C
NM_057174.2:c.960G>C NP_476515.1:p.Gln320His
NM_004813.3:c.*84G>C NP_004804.1:n.*84G>C
NM_004813.4:c.*84G>C MANE Select NP_004804.2:n.*84G>C
NM_057174.3:c.960G>C NP_476515.2:p.Gln320His
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