Canonical Allele Identifier: CA1968698119
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs2086758878
gnomAD v4: 11-45910049-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910049A>G , CM000673.2:g.45910049A>G GRCh38
NC_000011.9:g.45931600A>G , CM000673.1:g.45931600A>G GRCh37
NC_000011.8:g.45888176A>G NCBI36
NG_008460.1:g.13075T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*205T>C MANE Select ENSP00000368024.5:n.*205T>C
ENST00000241041.7:c.*40T>C ENSP00000241041.3:n.*40T>C
NM_004813.2:c.*205T>C NP_004804.1:n.*205T>C
NM_057174.2:c.*40T>C NP_476515.1:n.*40T>C
NM_004813.3:c.*205T>C NP_004804.1:n.*205T>C
NM_004813.4:c.*205T>C MANE Select NP_004804.2:n.*205T>C
NM_057174.3:c.*40T>C NP_476515.2:n.*40T>C
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