Canonical Allele Identifier: CA983287165
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs2072780422
gnomAD v3: 17-35575719-G-A
gnomAD v4: 17-35575719-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575719G>A , CM000679.2:g.35575719G>A GRCh38
NC_000017.10:g.33902738G>A , CM000679.1:g.33902738G>A GRCh37
NC_000017.9:g.30926851G>A NCBI36
NG_008447.1:g.7919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.*63C>T MANE Select ENSP00000225873.3:n.*63C>T
ENST00000225873.8:c.*63C>T ENSP00000225873.3:n.*63C>T
ENST00000613219.4:c.*63C>T ENSP00000482609.1:n.*63C>T
NM_000286.2:c.*63C>T NP_000277.1:n.*63C>T
NM_000286.3:c.*63C>T MANE Select NP_000277.1:n.*63C>T
Search 100 bp 5'
Search 100 bp 3'