Canonical Allele Identifier: CA2613277440
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45909989-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909989T>C , CM000673.2:g.45909989T>C GRCh38
NC_000011.9:g.45931540T>C , CM000673.1:g.45931540T>C GRCh37
NC_000011.8:g.45888116T>C NCBI36
NG_008460.1:g.13135A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*265A>G MANE Select ENSP00000368024.5:n.*265A>G
ENST00000241041.7:c.*100A>G ENSP00000241041.3:n.*100A>G
NM_004813.2:c.*265A>G NP_004804.1:n.*265A>G
NM_057174.2:c.*100A>G NP_476515.1:n.*100A>G
NM_004813.3:c.*265A>G NP_004804.1:n.*265A>G
NM_004813.4:c.*265A>G MANE Select NP_004804.2:n.*265A>G
NM_057174.3:c.*100A>G NP_476515.2:n.*100A>G
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