Canonical Allele Identifier: CA5959695
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 3036863
ClinVar RCV Id: RCV003913847
dbSNP Id: rs141070939
ExAC: 11:45931727 C / T
gnomAD v2: 11-45931727-C-T
gnomAD v3: 11-45910176-C-T
gnomAD v4: 11-45910176-C-T
MyVariant Identifiers: chr11:g.45931727C>T (hg19) chr11:g.45910176C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910176C>T , CM000673.2:g.45910176C>T GRCh38
NC_000011.9:g.45931727C>T , CM000673.1:g.45931727C>T GRCh37
NC_000011.8:g.45888303C>T NCBI36
NG_008460.1:g.12948G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*78G>A MANE Select ENSP00000368024.5:n.*78G>A
ENST00000241041.7:c.954G>A ENSP00000241041.3:p.Thr318=
ENST00000378750.9:c.*78G>A ENSP00000368024.5:n.*78G>A
ENST00000523721.2:n.319G>A
NM_004813.2:c.*78G>A NP_004804.1:n.*78G>A
NM_057174.2:c.954G>A NP_476515.1:p.Thr318=
XM_011520474.1:c.*78G>A XP_011518776.1:n.*78G>A
NM_004813.3:c.*78G>A NP_004804.1:n.*78G>A
NM_004813.4:c.*78G>A MANE Select NP_004804.2:n.*78G>A
NM_057174.3:c.954G>A NP_476515.2:p.Thr318=
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