Canonical Allele Identifier: CA290067996
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs988425243
gnomAD v3: 17-35575729-C-G
gnomAD v4: 17-35575729-C-G
MyVariant Identifiers: chr17:g.33902748C>G (hg19) chr17:g.35575729C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575729C>G , CM000679.2:g.35575729C>G GRCh38
NC_000017.10:g.33902748C>G , CM000679.1:g.33902748C>G GRCh37
NC_000017.9:g.30926861C>G NCBI36
NG_008447.1:g.7909G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.*53G>C MANE Select ENSP00000225873.3:n.*53G>C
ENST00000225873.8:c.*53G>C ENSP00000225873.3:n.*53G>C
ENST00000613219.4:c.*53G>C ENSP00000482609.1:n.*53G>C
NM_000286.2:c.*53G>C NP_000277.1:n.*53G>C
NM_000286.3:c.*53G>C MANE Select NP_000277.1:n.*53G>C
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