Canonical Allele Identifier: CA676924514
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1175717508
gnomAD v3: 11-45909969-C-A
gnomAD v4: 11-45909969-C-A
MyVariant Identifiers: chr11:g.45931520C>A (hg19) chr11:g.45909969C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909969C>A , CM000673.2:g.45909969C>A GRCh38
NC_000011.9:g.45931520C>A , CM000673.1:g.45931520C>A GRCh37
NC_000011.8:g.45888096C>A NCBI36
NG_008460.1:g.13155G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*285G>T MANE Select ENSP00000368024.5:n.*285G>T
ENST00000241041.7:c.*120G>T ENSP00000241041.3:n.*120G>T
NM_004813.2:c.*285G>T NP_004804.1:n.*285G>T
NM_057174.2:c.*120G>T NP_476515.1:n.*120G>T
NM_004813.3:c.*285G>T NP_004804.1:n.*285G>T
NM_004813.4:c.*285G>T MANE Select NP_004804.2:n.*285G>T
NM_057174.3:c.*120G>T NP_476515.2:n.*120G>T
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