Canonical Allele Identifier: CA2613277502
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45910008-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910008G>T , CM000673.2:g.45910008G>T GRCh38
NC_000011.9:g.45931559G>T , CM000673.1:g.45931559G>T GRCh37
NC_000011.8:g.45888135G>T NCBI36
NG_008460.1:g.13116C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*246C>A MANE Select ENSP00000368024.5:n.*246C>A
ENST00000241041.7:c.*81C>A ENSP00000241041.3:n.*81C>A
NM_004813.2:c.*246C>A NP_004804.1:n.*246C>A
NM_057174.2:c.*81C>A NP_476515.1:n.*81C>A
NM_004813.3:c.*246C>A NP_004804.1:n.*246C>A
NM_004813.4:c.*246C>A MANE Select NP_004804.2:n.*246C>A
NM_057174.3:c.*81C>A NP_476515.2:n.*81C>A
Search 100 bp 5'
Search 100 bp 3'