Canonical Allele Identifier: CA2257586121
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs1597922164
gnomAD v4: 17-35575723-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575723C>T , CM000679.2:g.35575723C>T GRCh38
NC_000017.10:g.33902742C>T , CM000679.1:g.33902742C>T GRCh37
NC_000017.9:g.30926855C>T NCBI36
NG_008447.1:g.7915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.*59G>A MANE Select ENSP00000225873.3:n.*59G>A
ENST00000225873.8:c.*59G>A ENSP00000225873.3:n.*59G>A
ENST00000613219.4:c.*59G>A ENSP00000482609.1:n.*59G>A
NM_000286.2:c.*59G>A NP_000277.1:n.*59G>A
NM_000286.3:c.*59G>A MANE Select NP_000277.1:n.*59G>A
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