Canonical Allele Identifier: CA2613277622
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45910038-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910038C>T , CM000673.2:g.45910038C>T GRCh38
NC_000011.9:g.45931589C>T , CM000673.1:g.45931589C>T GRCh37
NC_000011.8:g.45888165C>T NCBI36
NG_008460.1:g.13086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*216G>A MANE Select ENSP00000368024.5:n.*216G>A
ENST00000241041.7:c.*51G>A ENSP00000241041.3:n.*51G>A
NM_004813.2:c.*216G>A NP_004804.1:n.*216G>A
NM_057174.2:c.*51G>A NP_476515.1:n.*51G>A
NM_004813.3:c.*216G>A NP_004804.1:n.*216G>A
NM_004813.4:c.*216G>A MANE Select NP_004804.2:n.*216G>A
NM_057174.3:c.*51G>A NP_476515.2:n.*51G>A
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