Canonical Allele Identifier: CA2637282483
Gene: PEX12 HGNC NCBI

Linked Data

gnomAD v4: 17-35575739-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575739A>G , CM000679.2:g.35575739A>G GRCh38
NC_000017.10:g.33902758A>G , CM000679.1:g.33902758A>G GRCh37
NC_000017.9:g.30926871A>G NCBI36
NG_008447.1:g.7899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.*43T>C MANE Select ENSP00000225873.3:n.*43T>C
ENST00000225873.8:c.*43T>C ENSP00000225873.3:n.*43T>C
ENST00000613219.4:c.*43T>C ENSP00000482609.1:n.*43T>C
NM_000286.2:c.*43T>C NP_000277.1:n.*43T>C
NM_000286.3:c.*43T>C MANE Select NP_000277.1:n.*43T>C
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