Canonical Allele Identifier: CA5959683
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs192938944
ExAC: 11:45931675 A / T
gnomAD v2: 11-45931675-A-T
gnomAD v3: 11-45910124-A-T
gnomAD v4: 11-45910124-A-T
MyVariant Identifiers: chr11:g.45931675A>T (hg19) chr11:g.45910124A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910124A>T , CM000673.2:g.45910124A>T GRCh38
NC_000011.9:g.45931675A>T , CM000673.1:g.45931675A>T GRCh37
NC_000011.8:g.45888251A>T NCBI36
NG_008460.1:g.13000T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*130T>A MANE Select ENSP00000368024.5:n.*130T>A
ENST00000241041.7:c.1006T>A ENSP00000241041.3:p.Trp336Arg
NM_004813.2:c.*130T>A NP_004804.1:n.*130T>A
NM_057174.2:c.1006T>A NP_476515.1:p.Trp336Arg
NM_004813.3:c.*130T>A NP_004804.1:n.*130T>A
NM_004813.4:c.*130T>A MANE Select NP_004804.2:n.*130T>A
NM_057174.3:c.1006T>A NP_476515.2:p.Trp336Arg
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