Canonical Allele Identifier: CA1968698087
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1484702154
gnomAD v4: 11-45909983-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909983A>C , CM000673.2:g.45909983A>C GRCh38
NC_000011.9:g.45931534A>C , CM000673.1:g.45931534A>C GRCh37
NC_000011.8:g.45888110A>C NCBI36
NG_008460.1:g.13141T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*271T>G MANE Select ENSP00000368024.5:n.*271T>G
ENST00000241041.7:c.*106T>G ENSP00000241041.3:n.*106T>G
NM_004813.2:c.*271T>G NP_004804.1:n.*271T>G
NM_057174.2:c.*106T>G NP_476515.1:n.*106T>G
NM_004813.3:c.*271T>G NP_004804.1:n.*271T>G
NM_004813.4:c.*271T>G MANE Select NP_004804.2:n.*271T>G
NM_057174.3:c.*106T>G NP_476515.2:n.*106T>G
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