Canonical Allele Identifier: CA5959674
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284823
ClinVar RCV Id: RCV001700929
dbSNP Id: rs78508822
ExAC: 11:45931646 G / A
gnomAD v2: 11-45931646-G-A
gnomAD v3: 11-45910095-G-A
gnomAD v4: 11-45910095-G-A
MyVariant Identifiers: chr11:g.45931646G>A (hg19) chr11:g.45910095G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910095G>A , CM000673.2:g.45910095G>A GRCh38
NC_000011.9:g.45931646G>A , CM000673.1:g.45931646G>A GRCh37
NC_000011.8:g.45888222G>A NCBI36
NG_008460.1:g.13029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*159C>T MANE Select ENSP00000368024.5:n.*159C>T
ENST00000241041.7:c.1035C>T ENSP00000241041.3:p.His345=
NM_004813.2:c.*159C>T NP_004804.1:n.*159C>T
NM_057174.2:c.1035C>T NP_476515.1:p.His345=
NM_004813.3:c.*159C>T NP_004804.1:n.*159C>T
NM_004813.4:c.*159C>T MANE Select NP_004804.2:n.*159C>T
NM_057174.3:c.1035C>T NP_476515.2:p.His345=
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