Canonical Allele Identifier: CA5959756
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 304786
ClinVar RCV Id: RCV000270043 RCV001859807
dbSNP Id: rs775371916
ExAC: 11:45932455 C / T
gnomAD v2: 11-45932455-C-T
gnomAD v4: 11-45910904-C-T
MyVariant Identifiers: chr11:g.45932455C>T (hg19) chr11:g.45910904C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910904C>T , CM000673.2:g.45910904C>T GRCh38
NC_000011.9:g.45932455C>T , CM000673.1:g.45932455C>T GRCh37
NC_000011.8:g.45889031C>T NCBI36
NG_008460.1:g.12220G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.946G>A MANE Select ENSP00000368024.5:p.Val316Ile
ENST00000241041.7:c.946G>A ENSP00000241041.3:p.Val316Ile
ENST00000378750.9:c.946G>A ENSP00000368024.5:p.Val316Ile
ENST00000523721.2:n.176G>A
ENST00000532681.5:c.661G>A ENSP00000434654.1:p.Val221Ile
NM_004813.2:c.946G>A NP_004804.1:p.Val316Ile
NM_057174.2:c.946G>A NP_476515.1:p.Val316Ile
XM_011520474.1:c.823G>A XP_011518776.1:p.Val275Ile
NM_004813.3:c.946G>A NP_004804.1:p.Val316Ile
NM_004813.4:c.946G>A MANE Select NP_004804.2:p.Val316Ile
NM_057174.3:c.946G>A NP_476515.2:p.Val316Ile
Search 100 bp 5'
Search 100 bp 3'