Canonical Allele Identifier: CA10630932
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 304773
ClinVar RCV Id: RCV000287824
dbSNP Id: rs770223341
gnomAD v2: 11-45931248-C-G
gnomAD v3: 11-45909697-C-G
gnomAD v4: 11-45909697-C-G
MyVariant Identifiers: chr11:g.45931248C>G (hg19) chr11:g.45909697C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909697C>G , CM000673.2:g.45909697C>G GRCh38
NC_000011.9:g.45931248C>G , CM000673.1:g.45931248C>G GRCh37
NC_000011.8:g.45887824C>G NCBI36
NG_008460.1:g.13427G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*557G>C MANE Select ENSP00000368024.5:n.*557G>C
ENST00000241041.7:c.*392G>C ENSP00000241041.3:n.*392G>C
NM_004813.2:c.*557G>C NP_004804.1:n.*557G>C
NM_057174.2:c.*392G>C NP_476515.1:n.*392G>C
NM_004813.3:c.*557G>C NP_004804.1:n.*557G>C
NM_004813.4:c.*557G>C MANE Select NP_004804.2:n.*557G>C
NM_057174.3:c.*392G>C NP_476515.2:n.*392G>C
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